Full data view for gene PCYT1A

Information The variants shown are described using the NM_005017.2 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
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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.58G>C r.(?) p.(Gly20Arg) Unknown - likely benign g.195997345C>G g.196270474C>G PCYT1A(NM_005017.4):c.58G>C (p.G20R) - PCYT1A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.85G>A r.(?) p.(Gly29Arg) Unknown - likely benign g.195997318C>T - PCYT1A(NM_005017.2):c.85G>A (p.(Gly29Arg)) - PCYT1A_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.106C>T r.(?) p.(Arg36Cys) Unknown - VUS g.195997297G>A g.196270426G>A PCYT1A(NM_005017.4):c.106C>T (p.R36C) - PCYT1A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.118-6C>T r.(=) p.(=) Unknown - benign g.195984764G>A g.196257893G>A PCYT1A(NM_005017.4):c.118-6C>T - PCYT1A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.217+5G>A r.spl? p.? Unknown - VUS g.195984654C>T g.196257783C>T NM_001312673.1:c.217+5G>A - PCYT1A_000033 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case71583 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - 1 LOVD
+?/. 5 c.277G>A r.(?) p.(Ala93Thr) Maternal (confirmed) - likely pathogenic (recessive) g.195975135C>T g.196248264C>T - - PCYT1A_000002 - PubMed: Testa 2017, Journal: Testa 2017, PubMed: DiIorio 2017 - - Germline yes - - - - DNA SEQ-NG - - RD Fam1PatII1;Pat29 PubMed: Testa 2017, Journal: Testa 2017, PubMed: Di Iorio 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M no Italy - - - - - 1 Sandro Banfi
+?/. 5 c.277G>A r.(?) p.(Ala93Thr) Maternal (confirmed) - likely pathogenic (recessive) g.195975135C>T g.196248264C>T - - PCYT1A_000002 - PubMed: Testa 2017, Journal: Testa 2017 - - Germline yes - - - - DNA SEQ-NG - - RD 28272537-Fam2Pata PubMed: Testa 2017, Journal: Testa 2017 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F - Italy - - - - - 2 Sandro Banfi
+?/. - c.277G>A r.(?) p.(Ala93Thr) Parent #2 - likely pathogenic (recessive) g.195975135C>T g.196248264C>T - - PCYT1A_000002 - PubMed: DiIorio 2017 - - Germline - - - - - DNA SEQ-NG - 150-gene panel retinal disease Pat6 PubMed: Di Iorio 2017 - - - Italy - - - - - 1 LOVD
+?/. - c.277G>A r.(?) p.(Ala93Thr) Parent #2 - likely pathogenic (recessive) g.195975135C>T g.196248264C>T - - PCYT1A_000002 - PubMed: DiIorio 2017 - - Germline - - - - - DNA SEQ-NG - 150-gene panel retinal disease Pat7 PubMed: Di Iorio 2017 - - - Italy - - - - - 1 LOVD
+/. 5 c.295G>A r.(?) p.(Ala99Thr) Parent #2 - pathogenic (recessive) g.195975117C>T g.196248246C>T - - PCYT1A_000004 - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014, OMIM:var0003 - - Germline yes rs587777191 - - - DNA SEQ, SEQ-NG - - SMDCRD - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014 2-generation family, 3 affecteds (2F, M), unaffected carrier parents/sib, Fam4Pat4 F no - Europe, north - - - - 3 Johan den Dunnen
+/. 5 c.295G>A r.(?) p.(Ala99Thr) Parent #2 - pathogenic (recessive) g.195975117C>T g.196248246C>T - - PCYT1A_000004 - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014, OMIM:var0003 - - Germline yes rs587777191 - - - DNA SEQ, SEQ-NG - - SMDCRD - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014 Fam4Pat5 F no - Europe, north - - - - 1 Johan den Dunnen
+/. 5 c.295G>A r.(?) p.(Ala99Thr) Parent #2 - pathogenic (recessive) g.195975117C>T g.196248246C>T - - PCYT1A_000004 - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014, OMIM:var0003 - - Germline yes rs587777191 - - - DNA SEQ, SEQ-NG - - SMDCRD - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014 Fam4Pat6 M no - Europe, north - - - - 1 Johan den Dunnen
+/. 5 c.296C>T r.(?) p.(Ala99Val) Both (homozygous) - pathogenic (recessive) g.195975116G>A g.196248245G>A - - PCYT1A_000005 - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014, OMIM:var0001 - - Germline - rs587777189 - - - DNA SEQ, SEQ-NG - - SMDCRD - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014 3-generation family, 1 affected, unaffected carrier parents F no - Europe, north - - - - 1 Johan den Dunnen
+/. 5 c.296C>T r.(?) p.(Ala99Val) Maternal (confirmed) - pathogenic (recessive) g.195975116G>A g.196248245G>A - - PCYT1A_000005 - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014, OMIM:var0001 - - Germline - rs587777189 - - - DNA SEQ, SEQ-NG - - SMDCRD - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014 2-generation family, 1 affected, unaffected carrier parents M no - Europe, north - - - - 1 Johan den Dunnen
+/. 5 c.296C>T r.(?) p.(Ala99Val) Both (homozygous) - pathogenic (recessive) g.195975116G>A g.196248245G>A - - PCYT1A_000005 - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014, OMIM:var0001 - - Germline - rs587777189 - - - DNA SEQ, SEQ-NG - - SMDCRD - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014 2-generation family, 2 affecteds (F, M), unaffected carrier parents/sib, Pat1 F no Greece - - - - - 2 Johan den Dunnen
+?/. 5 c.296C>T r.(?) p.(Ala99Val) Both (homozygous) - likely pathogenic (recessive) g.195975116G>A g.196248245G>A - - PCYT1A_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - SMDCRD 1 - - M yes Brazil - >06y - - - 1 Karina Silveira
+/. 5 c.296C>T r.(?) p.(Ala99Val) Both (homozygous) ACMG pathogenic g.195975116G>A - - - PCYT1A_000005 ACMG grading: PS3,PM2,PM3,PP3 Walters et al. 2004. Am J Med Genet 129: 265; Hoover-Fong et al. 2014. Am J Hum Genet 94: 105; Cornell et al. 2018. J Biol Chem 294: 1490 - rs587777189 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
-?/. - c.321C>T r.(?) p.(Tyr107=) Unknown - likely benign g.195975091G>A g.196248220G>A PCYT1A(NM_001312673.2):c.321C>T (p.Y107=) - PCYT1A_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.325A>G r.(?) p.(Ile109Val) Unknown - VUS g.195975087T>C g.196248216T>C PCYT1A(NM_005017.2):c.325A>G (p.(Ile109Val)) - PCYT1A_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.335-12G>C r.(=) p.(=) Unknown - benign g.195974401C>G g.196247530C>G PCYT1A(NM_005017.4):c.335-12G>C - PCYT1A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.335-4C>T r.spl? p.? Unknown - likely benign g.195974393G>A g.196247522G>A PCYT1A(NM_005017.2):c.335-4C>T (p.?) - PCYT1A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.348G>A r.(?) p.(Glu116=) Unknown - benign g.195974376C>T g.196247505C>T PCYT1A(NM_005017.4):c.348G>A (p.E116=) - PCYT1A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.385G>A r.(?) p.(Glu129Lys) Maternal (confirmed) - pathogenic (recessive) g.195974339C>T g.196247468C>T - - PCYT1A_000006 - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014, OMIM:var0007 - - Germline - rs587777194 - - - DNA SEQ, SEQ-NG - - SMDCRD - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014 2-generation family, 1 affected, unaffected carrier parents M no Korea - - - - - 1 Johan den Dunnen
+/. 6 c.385G>A r.(?) p.(Glu129Lys) Both (homozygous) - pathogenic (recessive) g.195974339C>T g.196247468C>T - - PCYT1A_000006 - PubMed: Yamamoto 2014, Journal: Yamamoto 2014, OMIM:var0007 - - Germline yes rs587777194 - - - DNA SEQ, SEQ-NG - - SMDCRD - PubMed: Yamamoto 2014, Journal: Yamamoto 2014 4-generation family, affected brother/sister, unaffected carrier parents, PatIV4 M yes Japan - - - - - 2 Johan den Dunnen
+/. 6 c.385G>A r.(?) p.(Glu129Lys) Both (homozygous) - pathogenic (recessive) g.195974339C>T g.196247468C>T - - PCYT1A_000006 - PubMed: Yamamoto 2014, Journal: Yamamoto 2014, OMIM:var0007 - - Germline yes rs587777194 - - - DNA SEQ, SEQ-NG - - SMDCRD - PubMed: Yamamoto 2014, Journal: Yamamoto 2014 PatIV5 F yes Japan - - - - - 1 Johan den Dunnen
+/. 6 c.424G>A r.(?) p.(Val142Met) Maternal (confirmed) - pathogenic (recessive) g.195974300C>T g.196247429C>T - - PCYT1A_000013 - PubMed: Payne 2014, Journal: Payne 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - lipodystrophy, congenital, and fatty liver disease - PubMed: Payne 2014, Journal: Payne 2014 2-generation family, 1 affected, unaffected carrier parents M no United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 6 c.448C>G r.(?) p.(Pro150Ala) Paternal (confirmed) - pathogenic (recessive) g.195974276G>C g.196247405G>C - - PCYT1A_000007 - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014, OMIM:var0002 - - Germline - rs587777190 - - - DNA SEQ, SEQ-NG - - SMDCRD - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014 2-generation family, 1 affected, unaffected carrier parents M no - Europe, north - - - - 1 Johan den Dunnen
+?/. - c.448C>G r.(?) p.(Pro150Ala) Unknown - likely pathogenic g.195974276G>C - PCYT1A(NM_005017.2):c.448C>G (p.(Pro150Ala)) - PCYT1A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.471C>G r.(?) p.(Phe157Leu) Parent #1 - likely pathogenic g.195974253G>C g.196247382G>C PCYT1A, variant 1: c.968dup/p.S323Rfs*38, variant 2: c.471C>G/p.F157L - PCYT1A_000036 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 468 PubMed: Weisschuh 2020 Filing key number: 150, Leber congenital amaurosis, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
-?/. - c.478G>A r.(?) p.(Glu160Lys) Unknown - likely benign g.195974246C>T - PCYT1A(NM_005017.2):c.478G>A (p.(Glu160Lys)) - PCYT1A_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.565+12G>C r.(=) p.(=) Unknown - benign g.195969421C>G g.196242550C>G PCYT1A(NM_005017.4):c.565+12G>C - PCYT1A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.571T>C r.(?) p.(Phe191Leu) Paternal (confirmed) - pathogenic (recessive) g.195968956A>G g.196242085A>G - - PCYT1A_000008 - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014, OMIM:var0008 - - Germline - rs587777195 - - - DNA SEQ, SEQ-NG - - SMDCRD - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014 2-generation family, 1 affected, unaffected carrier parents M no Korea - - - - - 1 Johan den Dunnen
+/. 8 c.669G>C r.(?) p.(Arg223Ser) Paternal (confirmed) - pathogenic (recessive) g.195968858C>G g.196241987C>G - - PCYT1A_000009 - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014, OMIM:var0006 - - Germline - rs540053239 - - - DNA SEQ, SEQ-NG - - SMDCRD - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014 2-generation family, 1 affected, unaffected carrier parents/sib M no Japan - - - - - 1 Johan den Dunnen
-?/. - c.707A>G r.(?) p.(Asn236Ser) Unknown - likely benign g.195968820T>C g.196241949T>C PCYT1A(NM_001312673.2):c.707A>G (p.N236S), PCYT1A(NM_005017.4):c.707A>G (p.N236S) - PCYT1A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.707A>G r.(?) p.(Asn236Ser) Unknown - likely benign g.195968820T>C - PCYT1A(NM_001312673.2):c.707A>G (p.N236S), PCYT1A(NM_005017.4):c.707A>G (p.N236S) - PCYT1A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.830A>G r.(?) p.(Lys277Arg) Unknown - likely benign g.195966485T>C - PCYT1A(NM_005017.2):c.830A>G (p.(Lys277Arg)) - PCYT1A_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.838_840del r.(?) p.(Glu280del) Paternal (confirmed) - pathogenic (recessive) g.195966479_195966481del g.196239608_196239610del - - PCYT1A_000010 - PubMed: Payne 2014, Journal: Payne 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - lipodystrophy, congenital, and fatty liver disease - PubMed: Payne 2014, Journal: Payne 2014 2-generation family, 1 affected, unaffected carrier parents M no United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 9 c.838_840del r.(?) p.(Glu280del) Paternal (confirmed) - pathogenic (recessive) g.195966479_195966481del g.196239608_196239610del - - PCYT1A_000010 - PubMed: Payne 2014, Journal: Payne 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - lipodystrophy, congenital, and fatty liver disease - PubMed: Payne 2014, Journal: Payne 2014 2-generation family, 1 affected, unaffected carrier parents F no United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-/. - c.843G>A r.(?) p.(Lys281=) Unknown - benign g.195966472C>T g.196239601C>T PCYT1A(NM_005017.4):c.843G>A (p.K281=) - PCYT1A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.847C>T r.(?) p.(Arg283*) Paternal (confirmed) - likely pathogenic (recessive) g.195966468G>A g.196239597G>A - - PCYT1A_000001 - PubMed: Testa 2017, Journal: Testa 2017 - - Germline - - - - - DNA SEQ-NG - - RD 28272537-Fam2Pata PubMed: Testa 2017, Journal: Testa 2017 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F - Italy - - - - - 2 Sandro Banfi
+/. 9 c.847C>T r.(?) p.(Arg283*) Parent #1 - pathogenic (recessive) g.195966468G>A g.196239597G>A - - PCYT1A_000001 - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014, OMIM:var0004 - - Germline yes rs587777192 - - - DNA SEQ, SEQ-NG - - SMDCRD - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014 2-generation family, 3 affecteds (2F, M), unaffected carrier parents/sib, Fam4Pat4 F no - Europe, north - - - - 3 Johan den Dunnen
+/. 9 c.847C>T r.(?) p.(Arg283*) Parent #1 - pathogenic (recessive) g.195966468G>A g.196239597G>A - - PCYT1A_000001 - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014, OMIM:var0004 - - Germline yes rs587777192 - - - DNA SEQ, SEQ-NG - - SMDCRD - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014 Fam4Pat5 F no - Europe, north - - - - 1 Johan den Dunnen
+/. 9 c.847C>T r.(?) p.(Arg283*) Parent #1 - pathogenic (recessive) g.195966468G>A g.196239597G>A - - PCYT1A_000001 - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014, OMIM:var0004 - - Germline yes rs587777192 - - - DNA SEQ, SEQ-NG - - SMDCRD - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014 Fam4Pat6 M no - Europe, north - - - - 1 Johan den Dunnen
+?/. - c.847C>T r.(?) p.(Arg283*) Parent #1 - likely pathogenic (recessive) g.195966468G>A g.196239597G>A - - PCYT1A_000001 - PubMed: DiIorio 2017 - - Germline - - - - - DNA SEQ-NG - 150-gene panel retinal disease Pat6 PubMed: Di Iorio 2017 - - - Italy - - - - - 1 LOVD
+?/. - c.847C>T r.(?) p.(Arg283*) Parent #1 - likely pathogenic (recessive) g.195966468G>A g.196239597G>A - - PCYT1A_000001 - PubMed: DiIorio 2017 - - Germline - - - - - DNA SEQ-NG - 150-gene panel retinal disease Pat7 PubMed: Di Iorio 2017 - - - Italy - - - - - 1 LOVD
?/. - c.884C>T r.(?) p.(Pro295Leu) Unknown - VUS g.195966431G>A - PCYT1A(NM_005017.2):c.884C>T (p.(Pro295Leu)) - PCYT1A_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9i c.897+1G>A r.spl p.? Paternal (confirmed) - likely pathogenic (recessive) g.195966417C>T g.196239546C>T - - PCYT1A_000003 - PubMed: Testa 2017, Journal: Testa 2017, PubMed: DiIorio 2017 - - De novo yes - - - - DNA SEQ-NG - - RD Fam1PatII1;Pat29 PubMed: Testa 2017, Journal: Testa 2017, PubMed: Di Iorio 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M no Italy - - - - - 1 Sandro Banfi
-?/. - c.960C>T r.(?) p.(Pro320=) Unknown - likely benign g.195965703G>A g.196238832G>A PCYT1A(NM_005017.3):c.960C>T (p.P320=) - PCYT1A_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.968dup r.(?) p.(Ser323Argfs*38) Both (homozygous) - pathogenic (recessive) g.195965695dup g.196238824dup - - PCYT1A_000012 - PubMed: Yamamoto 2014, Journal: Yamamoto 2014, OMIM:var0009 - - Germline yes rs587777196 - - - DNA SEQ, SEQ-NG - - SMDCRD - PubMed: Yamamoto 2014, Journal: Yamamoto 2014 5-generation family, 2 affecteds, unaffected carrier parents/relatives, PatV2 F yes Japan - - - - - 2 Johan den Dunnen
+/. 10 c.968dup r.(?) p.(Ser323Argfs*38) Both (homozygous) - pathogenic (recessive) g.195965695dup g.196238824dup - - PCYT1A_000012 - PubMed: Yamamoto 2014, Journal: Yamamoto 2014, OMIM:var0009 - - Germline yes rs587777196 - - - DNA SEQ, SEQ-NG - - SMDCRD - PubMed: Yamamoto 2014, Journal: Yamamoto 2014 PatV5 F yes Japan - - - - - 1 Johan den Dunnen
+?/. - c.968dup r.(?) p.(Ser323Argfs*38) Parent #1 - likely pathogenic g.195965695dup g.196238824dup PCYT1A, variant 1: c.968dup/p.S323Rfs*38, variant 2: c.471C>G/p.F157L - PCYT1A_000012 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 468 PubMed: Weisschuh 2020 Filing key number: 150, Leber congenital amaurosis, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
-?/. - c.983G>A r.(?) p.(Arg328His) Unknown - likely benign g.195965680C>T g.196238809C>T PCYT1A(NM_001312673.2):c.983G>A (p.R328H) - PCYT1A_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.984C>T r.(?) p.(Arg328=) Unknown - likely benign g.195965679G>A - PCYT1A(NM_001312673.2):c.984C>T (p.R328=) - PCYT1A_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.988C>T r.(?) p.(Pro330Ser) Unknown - VUS g.195965675G>A - PCYT1A(NM_001312673.1):c.988C>T (p.(Pro330Ser)) - PCYT1A_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.990del r.(?) p.(Ser331ProfsTer?) Maternal (confirmed) - pathogenic (recessive) g.195965677del g.196238806del - - PCYT1A_000011 - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014, OMIM:var0005 - - Germline - rs587777193 - - - DNA SEQ, SEQ-NG - - SMDCRD - PubMed: Hoover-Fong 2014, Journal: Hoover-Fong 2014 2-generation family, 1 affected, unaffected carrier parents/sib M no Japan - - - - - 1 Johan den Dunnen
-?/. - c.996C>G r.(?) p.(Pro332=) Unknown - likely benign g.195965667G>C g.196238796G>C PCYT1A(NM_001312673.2):c.996C>G (p.P332=), PCYT1A(NM_005017.4):c.996C>G (p.P332=) - PCYT1A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.996C>G r.(?) p.(Pro332=) Unknown - likely benign g.195965667G>C - PCYT1A(NM_001312673.2):c.996C>G (p.P332=), PCYT1A(NM_005017.4):c.996C>G (p.P332=) - PCYT1A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.996del r.(?) p.(Ser333Leufs*?) Maternal (confirmed) - pathogenic (recessive) g.195965671del g.196238800del 195965666delG - PCYT1A_000014 - PubMed: Payne 2014, Journal: Payne 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - lipodystrophy, congenital, and fatty liver disease - PubMed: Payne 2014, Journal: Payne 2014 2-generation family, 1 affected, unaffected carrier parents F no United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.1010C>T r.(?) p.(Pro337Leu) Unknown - VUS g.195965653G>A g.196238782G>A PCYT1A(NM_005017.4):c.1010C>T (p.P337L) - PCYT1A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6195C>A r.(=) p.(=) Unknown - VUS g.195959364G>T - SLC51A(NM_152672.6):c.855G>T (p.(Ser285=)) - PCYT1A_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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