Full data view for gene SRCAP

Information The variants shown are described using the NM_006662.2 transcript reference sequence.

334 entries on 4 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-3527696_*1137630dup - - Unknown - pathogenic g.27183151_31888684dup g.27171830_31877363dup - - CLN3_000010 mosaicism, copy number 3 in 0.33 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
+?/. - c.-2610846_*3848946del r.0? p.0? Unknown - likely pathogenic g.28100001_34600000del g.28500001_35300000del CGH array, microdeletion in 16p11.2 - CRYM_000000 zygosity not written; probable breakpoints; pathogenic in literature; genes ANKS4B,CRYM,NPIPB3,SMG1P3,RRN3P3,MIR3680-1,MIR3680-2,SLC7A5P2,LOC101927814,METTL9,IGSF6,OTOA,OTOAP1,RRN3P1,NPIPB4,NPIPB5,UQCRC2,PDZD9,MOSMO,VWA3A,EEF2K,POLR3E,CDR2,MFSD13B,HS3ST2,USP31,SCNN1G,SCNN1B,COG7,GGA2,EARS2,UBFD1,NDUFAB1,PALB2,DCTN5,PLK1,ERN2,CHP2 PubMed: Ruberto 2020 - - Unknown ? - - - - DNA arrayCGH - targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease 3 PubMed: Ruberto 2020 - ? - Italy - - - - - 1 LOVD
-?/. - c.-5211C>T r.(?) p.(=) Unknown - likely benign g.30705636C>T - SRCAP(NM_006662.3):c.-5211C>T - SRCAP_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.? r.(?) p.(Pro382Valfs*14) Unknown - pathogenic (dominant) g.? - (Pro382Valfs*14) - SRCAP_000117 - Rots ESHG2020 C02.4 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD patient Rots ESHG2020 C02.4 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(Gln537Lysfs*5) Unknown - pathogenic (dominant) g.? - (Gln537Lysfs*5) - SRCAP_000118 - Rots ESHG2020 C02.4 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD patient Rots ESHG2020 C02.4 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(Gln1519Hisfs*18) Unknown - pathogenic (dominant) g.? - (Gln1519Hisfs*18) - SRCAP_000119 - Rots ESHG2020 C02.4 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD patient Rots ESHG2020 C02.4 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(Ser1821Argfs*32) Unknown - pathogenic (dominant) g.? - (Ser1821Argfs*32) - SRCAP_000120 - Rots ESHG2020 C02.4 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD patient Rots ESHG2020 C02.4 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(Asp2137Glufs*25) Unknown - pathogenic (dominant) g.? - (Asp2137Glufs*25) - SRCAP_000121 - Rots ESHG2020 C02.4 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD patient Rots ESHG2020 C02.4 - - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(Leu3113Profs*14) Unknown - pathogenic (dominant) g.? - (Leu3113Profs*14) - SRCAP_000122 - Rots ESHG2020 C02.4 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD patient Rots ESHG2020 C02.4 - - - - - - - - - 1 Johan den Dunnen
+/. - c.55-1G>A r.spl p.? Unknown - pathogenic (dominant) g.30715384G>A g.30704063G>A - - SRCAP_000123 - Rots ESHG2020 C02.4 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD patient Rots ESHG2020 C02.4 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.114A>G r.(?) p.(Pro38=) Unknown - likely benign g.30715444A>G g.30704123A>G SRCAP(NM_006662.2):c.114A>G (p.P38=) - SRCAP_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.115G>A r.(?) p.(Ala39Thr) Unknown - likely benign g.30715445G>A g.30704124G>A SRCAP(NM_006662.2):c.115G>A (p.A39T) - SRCAP_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.188C>T r.(?) p.(Pro63Leu) Unknown - VUS g.30715518C>T g.30704197C>T SRCAP(NM_006662.2):c.188C>T (p.P63L, p.(Pro63Leu)), SRCAP(NM_006662.3):c.188C>T (p.P63L) - SRCAP_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.188C>T r.(?) p.(Pro63Leu) Unknown - likely benign g.30715518C>T g.30704197C>T SRCAP(NM_006662.2):c.188C>T (p.P63L, p.(Pro63Leu)), SRCAP(NM_006662.3):c.188C>T (p.P63L) - SRCAP_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.188C>T r.(?) p.(Pro63Leu) Unknown - likely benign g.30715518C>T - SRCAP(NM_006662.2):c.188C>T (p.P63L, p.(Pro63Leu)), SRCAP(NM_006662.3):c.188C>T (p.P63L) - SRCAP_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.225_234del r.(?) p.(Ser75Argfs*44) Unknown - pathogenic g.30715555_30715564del - SRCAP(NM_006662.3):c.225_234delCTTATCCCAG (p.S75Rfs*44) - SRCAP_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.241G>C r.(?) p.(Asp81His) Unknown - likely benign g.30715571G>C - SRCAP(NM_006662.2):c.241G>C (p.(Asp81His)) - SRCAP_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.263A>G r.(?) p.(Lys88Arg) Unknown - VUS g.30715593A>G - SRCAP(NM_006662.2):c.263A>G (p.(Lys88Arg)) - SRCAP_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.278A>G r.(?) p.(His93Arg) Unknown - likely benign g.30715608A>G - SRCAP(NM_006662.3):c.278A>G (p.H93R) - SRCAP_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.306+4C>A r.(?) p.(?) Unknown - VUS g.30715640C>A - - - SRCAP_000162 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.306+4C>T r.spl? p.? Unknown - likely benign g.30715640C>T g.30704319C>T SRCAP(NM_006662.2):c.306+4C>T (p.?) - SRCAP_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.306+5G>A r.spl? p.? Unknown - likely benign g.30715641G>A g.30704320G>A - - SRCAP_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.306+8T>C r.(=) p.(=) Unknown - likely benign g.30715644T>C - SRCAP(NM_006662.2):c.306+8T>C - SRCAP_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.307-38_307-37del r.(=) p.(=) Unknown - likely benign g.30718466_30718467del g.30707145_30707146del - - SRCAP_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.340C>T r.(?) p.(Arg114Trp) Unknown - VUS g.30718537C>T - - - SRCAP_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.450C>G r.(?) p.(Asp150Glu) Unknown - pathogenic g.30718647C>G g.30707326C>G - - SRCAP_000021 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-/. - c.493-20C>T r.(=) p.(=) Unknown - benign g.30718873C>T g.30707552C>T SRCAP(NM_006662.3):c.493-20C>T - SRCAP_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.493-20C>T r.(=) p.(=) Unknown - benign g.30718873C>T g.30707552C>T SRCAP(NM_006662.3):c.493-20C>T - SRCAP_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.800G>T r.(?) p.(Gly267Val) Paternal (confirmed) ACMG VUS g.30721000G>T g.30709679G>T - - SRCAP_000144 - PubMed: Squeo 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 68-gene panel ? GDB1185 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - - - - 1 Johan den Dunnen
-?/. - c.833C>G r.(?) p.(Pro278Arg) Unknown - likely benign g.30721033C>G - SRCAP(NM_006662.2):c.833C>G (p.(Pro278Arg)) - SRCAP_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.833del r.(?) p.(Pro278Leufs*102) Unknown - pathogenic (dominant) g.30721033del g.30709712del (Pro278Leufs*102) - SRCAP_000124 - Rots ESHG2020 C02.4 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD patient Rots ESHG2020 C02.4 - - - - - - - - - 1 Johan den Dunnen
?/. - c.859G>C r.(?) p.(Gly287Arg) Unknown - VUS g.30721174G>C - SRCAP(NM_006662.3):c.859G>C (p.(Gly287Arg)) - SRCAP_000247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.967C>T r.(?) p.(Leu323=) Unknown - likely benign g.30721282C>T - SRCAP(NM_006662.2):c.967C>T (p.L323=) - SRCAP_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.977G>A r.(?) p.(Arg326His) Unknown - likely benign g.30721292G>A g.30709971G>A SRCAP(NM_006662.2):c.977G>A (p.(Arg326His)) - SRCAP_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1103G>T r.(?) p.(Gly368Val) Unknown - likely benign g.30721418G>T - SRCAP(NM_006662.2):c.1103G>T (p.(Gly368Val)) - SRCAP_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1165C>A r.(?) p.(Arg389Ser) Unknown - likely benign g.30722105C>A g.30710784C>A SRCAP(NM_006662.2):c.1165C>A (p.R389S) - SRCAP_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1165C>T r.(?) p.(Arg389Cys) Unknown - VUS g.30722105C>T g.30710784C>T SRCAP(NM_006662.3):c.1165C>T (p.R389C) - SRCAP_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1174C>T r.(?) p.(Gln392*) Unknown - pathogenic (dominant) g.30722114C>T g.30710793C>T (Gln392*) - SRCAP_000125 - Rots ESHG2020 C02.4 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD patient Rots ESHG2020 C02.4 - - - - - - - - - 1 Johan den Dunnen
?/. - c.1224G>C r.(?) p.(Glu408Asp) Unknown - VUS g.30722164G>C g.30710843G>C SRCAP(NM_006662.2):c.1224G>C (p.(Glu408Asp)) - SRCAP_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1228+1G>A r.spl? p.? Unknown - VUS g.30722169G>A g.30710848G>A SRCAP(NM_006662.3):c.1228+1G>A - SRCAP_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1253C>T r.(?) p.(Ala418Val) Unknown - VUS g.30722344C>T - - - SRCAP_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1288G>A r.(?) p.(Ala430Thr) Unknown - VUS g.30722379G>A - SRCAP(NM_006662.2):c.1288G>A (p.A430T) - SRCAP_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1402G>A r.(?) p.(Asp468Asn) Unknown - VUS g.30722975G>A g.30711654G>A SRCAP(NM_006662.3):c.1402G>A (p.D468N) - SRCAP_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1478G>A r.(?) p.(Ser493Asn) Unknown - VUS g.30723051G>A - SRCAP(NM_006662.3):c.1478G>A (p.S493N) - SRCAP_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1493-8C>T r.(=) p.(=) Unknown - likely benign g.30723148C>T - SRCAP(NM_006662.2):c.1493-8C>T (p.(=)) - SRCAP_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1493-8C>T r.(=) p.(=) Unknown - likely benign g.30723148C>T - SRCAP(NM_006662.2):c.1493-8C>T (p.(=)) - SRCAP_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1559G>A r.(?) p.(Ser520Asn) Unknown - likely benign g.30723222G>A g.30711901G>A SRCAP(NM_006662.2):c.1559G>A (p.S520N, p.(Ser520Asn)), SRCAP(NM_006662.3):c.1559G>A (p.S520N) - SRCAP_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1559G>A r.(?) p.(Ser520Asn) Unknown - likely benign g.30723222G>A g.30711901G>A SRCAP(NM_006662.2):c.1559G>A (p.S520N, p.(Ser520Asn)), SRCAP(NM_006662.3):c.1559G>A (p.S520N) - SRCAP_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1559G>A r.(?) p.(Ser520Asn) Unknown - likely benign g.30723222G>A - SRCAP(NM_006662.2):c.1559G>A (p.S520N, p.(Ser520Asn)), SRCAP(NM_006662.3):c.1559G>A (p.S520N) - SRCAP_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1611G>C r.(?) p.(Gln537His) Unknown - likely benign g.30723274G>C - SRCAP(NM_006662.3):c.1611G>C (p.(Gln537His)) - SRCAP_000248 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1614C>T r.(?) p.(Ser538=) Unknown - likely benign g.30723277C>T - SRCAP(NM_006662.2):c.1614C>T (p.S538=) - SRCAP_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1674T>G r.(?) p.(Asp558Glu) Unknown - VUS g.30723337T>G g.30712016T>G SRCAP(NM_006662.2):c.1674T>G (p.(Asp558Glu)) - SRCAP_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1702A>G r.(?) p.(Ser568Gly) Unknown - likely benign g.30723365A>G g.30712044A>G SRCAP(NM_006662.2):c.1702A>G (p.S568G) - SRCAP_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1714_1716del r.(?) p.(Thr572del) Unknown - VUS g.30723377_30723379del g.30712056_30712058del SRCAP(NM_006662.2):c.1714_1716delACT (p.T572del) - SRCAP_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1793del r.(?) p.(Gly598Valfs*9) Unknown - pathogenic (dominant) g.30723456del g.30712135del (Gly598Valfs*9) - SRCAP_000126 - Rots ESHG2020 C02.4 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD patient Rots ESHG2020 C02.4 - - - - - - - - - 1 Johan den Dunnen
?/. - c.1855C>T r.(?) p.(Arg619Trp) Unknown - VUS g.30723622C>T g.30712301C>T - - SRCAP_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2064= r.(=) p.(Arg688=) Unknown - benign g.30724070G>T g.30712749G>T SRCAP(NM_006662.3):c.2064G>T (p.R688=) - SRCAP_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2401C>T r.(?) p.(Arg801Cys) Unknown - VUS g.30724940C>T - SRCAP(NM_006662.3):c.2401C>T (p.(Arg801Cys)) - SRCAP_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2518C>T r.(?) p.(Arg840*) Unknown - pathogenic (dominant) g.30727411C>T g.30716090C>T (Arg840*9) - SRCAP_000127 - Rots ESHG2020 C02.4 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD patient Rots ESHG2020 C02.4 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.2531A>G r.(?) p.(Asp844Gly) Unknown - likely benign g.30727424A>G - SRCAP(NM_006662.2):c.2531A>G (p.(Asp844Gly)) - SRCAP_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2571C>G r.(?) p.(Ile857Met) Unknown - VUS g.30727464C>G - SRCAP(NM_006662.2):c.2571C>G (p.(Ile857Met)) - SRCAP_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2572C>T r.(?) p.(Arg858Cys) Unknown - likely benign g.30727465C>T - SRCAP(NM_006662.3):c.2572C>T (p.(Arg858Cys)) - SRCAP_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2760C>T r.(?) p.(=) Unknown - likely benign g.30727743C>T - SRCAP(NM_006662.3):c.2760C>T (p.(Gly920=)) - SRCAP_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2774C>T r.(?) p.(Thr925Ile) Unknown - VUS g.30727757C>T - SRCAP(NM_006662.2):c.2774C>T (p.(Thr925Ile)), SRCAP(NM_006662.3):c.2774C>T (p.T925I) - SRCAP_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2774C>T r.(?) p.(Thr925Ile) Unknown - likely benign g.30727757C>T - SRCAP(NM_006662.2):c.2774C>T (p.(Thr925Ile)), SRCAP(NM_006662.3):c.2774C>T (p.T925I) - SRCAP_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2798C>T r.(?) p.(Thr933Met) Unknown - likely benign g.30727781C>T - SRCAP(NM_006662.3):c.2798C>T (p.(Thr933Met)) - SRCAP_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2807A>G r.(?) p.(His936Arg) Unknown - likely benign g.30727790A>G - SRCAP(NM_006662.2):c.2807A>G (p.(His936Arg)) - SRCAP_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2817+3A>G r.spl? p.? Unknown - likely benign g.30727803A>G g.30716482A>G SRCAP(NM_006662.2):c.2817+3A>G (p.?) - SRCAP_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2957G>A r.(?) p.(Arg986Gln) Unknown - VUS g.30731622G>A - SRCAP(NM_006662.3):c.2957G>A (p.R986Q) - SRCAP_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2972A>G r.(?) p.(Lys991Arg) Unknown - VUS g.30731637A>G - SRCAP(NM_006662.3):c.2972A>G (p.K991R) - SRCAP_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2983A>G r.(?) p.(Asn995Asp) Unknown - VUS g.30731648A>G g.30720327A>G SRCAP(NM_006662.2):c.2983A>G (p.N995D) - SRCAP_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2987+4C>T r.spl? p.? Unknown - likely benign g.30731656C>T g.30720335C>T SRCAP(NM_006662.2):c.2987+4C>T (p.?) - SRCAP_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3052C>T r.(?) p.(Pro1018Ser) Unknown - likely benign g.30732098C>T - SRCAP(NM_006662.2):c.3052C>T (p.(Pro1018Ser)) - SRCAP_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3097T>C r.(?) p.(Ser1033Pro) Unknown - VUS g.30732143T>C g.30720822T>C SRCAP(NM_006662.2):c.3097T>C (p.S1033P) - SRCAP_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3125_3127del r.(?) p.(Pro1042del) Unknown - VUS g.30732171_30732173del - SRCAP(NM_006662.2):c.3125_3127delCCC (p.(Pro1042del)) - SRCAP_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3176C>T r.(?) p.(Pro1059Leu) Unknown - likely benign g.30732222C>T - SRCAP(NM_006662.3):c.3176C>T (p.P1059L) - SRCAP_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3254T>C r.(?) p.(Val1085Ala) Unknown - likely benign g.30732510T>C - SRCAP(NM_006662.3):c.3254T>C (p.(Val1085Ala)) - SRCAP_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3293G>C r.(?) p.(Arg1098Pro) Unknown - VUS g.30732549G>C g.30721228G>C SRCAP(NM_006662.2):c.3293G>C (p.(Arg1098Pro)) - SRCAP_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3302C>A r.(?) p.(Thr1101Lys) Unknown - likely benign g.30732558C>A g.30721237C>A SRCAP(NM_006662.2):c.3302C>A (p.(Thr1101Lys)) - SRCAP_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3388C>T r.(?) p.(Pro1130Ser) Unknown - likely benign g.30732644C>T g.30721323C>T SRCAP(NM_006662.2):c.3388C>T (p.P1130S, p.(Pro1130Ser)), SRCAP(NM_006662.3):c.3388C>T (p.P1130S) - SRCAP_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3388C>T r.(?) p.(Pro1130Ser) Unknown - likely benign g.30732644C>T - SRCAP(NM_006662.2):c.3388C>T (p.P1130S, p.(Pro1130Ser)), SRCAP(NM_006662.3):c.3388C>T (p.P1130S) - SRCAP_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3388C>T r.(?) p.(Pro1130Ser) Unknown - likely benign g.30732644C>T - SRCAP(NM_006662.2):c.3388C>T (p.P1130S, p.(Pro1130Ser)), SRCAP(NM_006662.3):c.3388C>T (p.P1130S) - SRCAP_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3388C>T r.(?) p.(Pro1130Ser) Unknown - likely benign g.30732644C>T - SRCAP(NM_006662.2):c.3388C>T (p.P1130S, p.(Pro1130Ser)), SRCAP(NM_006662.3):c.3388C>T (p.P1130S) - SRCAP_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3449C>T r.(?) p.(Thr1150Ile) Unknown - likely benign g.30732705C>T - SRCAP(NM_006662.2):c.3449C>T (p.(Thr1150Ile)) - SRCAP_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3463A>G r.(?) p.(Thr1155Ala) Unknown - likely benign g.30732719A>G - SRCAP(NM_006662.3):c.3463A>G (p.(Thr1155Ala)) - SRCAP_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3542-5T>G r.spl? p.? Unknown - VUS g.30733438T>G - SRCAP(NM_006662.2):c.3542-5T>G (p.?) - SRCAP_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3640A>T r.(?) p.(Asn1214Tyr) Unknown - VUS g.30733541A>T - SRCAP(NM_006662.3):c.3640A>T (p.N1214Y) - SRCAP_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3698C>T r.(?) p.(Pro1233Leu) Unknown - VUS g.30733599C>T - SRCAP(NM_006662.3):c.3698C>T (p.(Pro1233Leu)) - SRCAP_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3781C>A r.(?) p.(Gln1261Lys) Unknown - VUS g.30733958C>A - SRCAP(NM_006662.2):c.3781C>A (p.(Gln1261Lys)) - SRCAP_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3833del r.(?) p.(Ser1278*) Unknown - pathogenic (dominant) g.30734010del g.30722689del (Ser1278*) - SRCAP_000128 - Rots ESHG2020 C02.4 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD patient Rots ESHG2020 C02.4 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.3834G>A r.(?) p.(Ser1278=) Unknown - likely benign g.30734011G>A g.30722690G>A SRCAP(NM_006662.2):c.3834G>A (p.S1278=) - SRCAP_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3868A>G r.(?) p.(Ser1290Gly) Unknown - likely benign g.30734045A>G g.30722724A>G SRCAP(NM_006662.2):c.3868A>G (p.(Ser1290Gly)) - SRCAP_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3881C>T r.(?) p.(Ala1294Val) Unknown - likely benign g.30734058C>T - SRCAP(NM_006662.2):c.3881C>T (p.(Ala1294Val)) - SRCAP_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3893-2A>G r.spl? p.? Unknown - likely pathogenic g.30734282A>G g.30722961A>G - - SRCAP_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3893-2A>G r.spl p.? Unknown - pathogenic (dominant) g.30734282A>G g.30722961A>G - - SRCAP_000056 - Rots ESHG2020 C02.4 - - De novo - - - - - DNA SEQ, SEQ-NG - WES trio NDD patient Rots ESHG2020 C02.4 - F - - - - - - - 1 Johan den Dunnen
?/. - c.4033C>T r.(?) p.(Arg1345Cys) Unknown - VUS g.30734424C>T g.30723103C>T SRCAP(NM_006662.3):c.4033C>T (p.(Arg1345Cys)) - SRCAP_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4040C>T r.(?) p.(Thr1347Met) Unknown - likely benign g.30734431C>T - SRCAP(NM_006662.3):c.4040C>T (p.T1347M) - SRCAP_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4076G>T r.(?) p.(Gly1359Val) Unknown - likely benign g.30734467G>T - SRCAP(NM_006662.2):c.4076G>T (p.(Gly1359Val)), SRCAP(NM_006662.3):c.4076G>T (p.G1359V) - SRCAP_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4076G>T r.(?) p.(Gly1359Val) Unknown - likely benign g.30734467G>T - SRCAP(NM_006662.2):c.4076G>T (p.(Gly1359Val)), SRCAP(NM_006662.3):c.4076G>T (p.G1359V) - SRCAP_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4105A>G r.(?) p.(Thr1369Ala) Unknown - likely benign g.30734496A>G - SRCAP(NM_006662.2):c.4105A>G (p.(Thr1369Ala)) - SRCAP_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.