Full data view for gene SPECC1L-ADORA2A

Information The variants shown are described using the NR_103546.1 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
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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     
?/. - n.461+2T>C r.(?) - Unknown - VUS g.24698354T>C - SPECC1L(NM_015330.4):c.153+2T>C (p.?) - SPECC1L-ADORA2A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.468A>G r.(?) - Unknown - VUS g.24709287A>G - SPECC1L(NM_015330.4):c.160A>G (p.S54G) - SPECC1L_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.508C>T r.(?) - Unknown - likely benign g.24709327C>T g.24313359C>T SPECC1L(NM_015330.4):c.200C>T (p.(Thr67Met)) - SPECC1L-ADORA2A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.601C>T r.(?) - Unknown - VUS g.24709420C>T g.24313452C>T SPECC1L(NM_001145468.2):c.293C>T (p.(Ser98Phe)), SPECC1L(NM_015330.4):c.293C>T (p.S98F), SPECC1L(NM_015330.6):c.293C>T (p.S98F) - SPECC1L-ADORA2A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.601C>T r.(?) - Unknown - likely benign g.24709420C>T g.24313452C>T SPECC1L(NM_001145468.2):c.293C>T (p.(Ser98Phe)), SPECC1L(NM_015330.4):c.293C>T (p.S98F), SPECC1L(NM_015330.6):c.293C>T (p.S98F) - SPECC1L-ADORA2A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.601C>T r.(?) - Unknown - benign g.24709420C>T g.24313452C>T SPECC1L(NM_001145468.2):c.293C>T (p.(Ser98Phe)), SPECC1L(NM_015330.4):c.293C>T (p.S98F), SPECC1L(NM_015330.6):c.293C>T (p.S98F) - SPECC1L-ADORA2A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.615+5C>T r.(?) - Unknown - likely benign g.24709439C>T - SPECC1L(NM_015330.6):c.307+5C>T - SPECC1L_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.804A>G r.(?) - Unknown - likely benign g.24717444A>G g.24321476A>G SPECC1L(NM_015330.4):c.496A>G (p.M166V), SPECC1L(NM_015330.6):c.496A>G (p.M166V) - SPECC1L_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.804A>G r.(?) - Unknown - likely benign g.24717444A>G - SPECC1L(NM_015330.4):c.496A>G (p.M166V), SPECC1L(NM_015330.6):c.496A>G (p.M166V) - SPECC1L_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.870C>T r.(?) - Unknown - likely benign g.24717510C>T g.24321542C>T SPECC1L(NM_001145468.2):c.562C>T (p.(Leu188Phe)) - SPECC1L-ADORA2A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.870C>T r.(?) - Parent #1 - likely benign g.24717510C>T g.24321542C>T - - SPECC1L-ADORA2A_000003 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs56168869 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - n.877C>T r.(?) - Unknown - likely benign g.24717517C>T - SPECC1L(NM_015330.6):c.569C>T (p.T190M) - SPECC1L_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.878G>A r.(?) - Unknown - benign g.24717518G>A g.24321550G>A SPECC1L(NM_015330.4):c.570G>A (p.T190=), SPECC1L(NM_015330.6):c.570G>A (p.T190=), SPECC1L-ADORA2A(NR_103546.1):n.878G>A - SPECC1L_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.878G>A r.(?) - Unknown - benign g.24717518G>A - SPECC1L(NM_015330.4):c.570G>A (p.T190=), SPECC1L(NM_015330.6):c.570G>A (p.T190=), SPECC1L-ADORA2A(NR_103546.1):n.878G>A - SPECC1L_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.908A>T r.(?) - Unknown - likely benign g.24717548A>T - SPECC1L(NM_001145468.2):c.600A>T (p.(Leu200Phe)) - SPECC1L-ADORA2A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.997C>T r.(?) - Unknown - likely benign g.24717637C>T g.24321669C>T SPECC1L(NM_001145468.2):c.689C>T (p.(Thr230Ile)) - SPECC1L-ADORA2A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.1008C>T r.(?) - Unknown - VUS g.24717648C>T - SPECC1L(NM_015330.6):c.700C>T (p.H234Y) - SPECC1L-ADORA2A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.1210= r.(=) - Unknown - benign g.24717850A>G g.24321882= SPECC1L(NM_015330.6):c.902A>G (p.D301G), SPECC1L-ADORA2A(NR_103546.1):n.1210A>G - SPECC1L_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.1420C>T r.(?) - Unknown - likely benign g.24718060C>T g.24322092C>T SPECC1L(NM_001145468.2):c.1112C>T (p.(Ser371Leu)) - SPECC1L-ADORA2A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.1534G>T r.(?) - Unknown - VUS g.24718174G>T - SPECC1L(NM_015330.4):c.1226G>T (p.(Ser409Ile)) - SPECC1L-ADORA2A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - n.1542G>C r.(?) - Unknown - likely pathogenic g.24718182G>C - - - SPECC1L_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - n.1548C>A r.(?) - Unknown - likely pathogenic g.24718188C>A g.24322220C>A SPECC1L(NM_015330.4):c.1240C>A (p.L414I) - SPECC1L_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - n.1611A>G r.(?) - Unknown - likely pathogenic g.24718251A>G g.24322283A>G - - SPECC1L_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.1637T>G r.(?) - Unknown - likely benign g.24718277T>G - SPECC1L(NM_001145468.2):c.1329T>G (p.(Val443=)) - SPECC1L-ADORA2A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.1667C>T r.(?) - Unknown - likely benign g.24718307C>T - SPECC1L(NM_015330.4):c.1359C>T (p.S453=) - SPECC1L_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.1768G>A r.(?) - Unknown - likely benign g.24718408G>A - SPECC1L(NM_015330.4):c.1460G>A (p.(Arg487His)), SPECC1L(NM_015330.6):c.1460G>A (p.R487H) - SPECC1L_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.1768G>A r.(?) - Unknown - benign g.24718408G>A - SPECC1L(NM_015330.4):c.1460G>A (p.(Arg487His)), SPECC1L(NM_015330.6):c.1460G>A (p.R487H) - SPECC1L_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.2089A>G r.(?) - Unknown - VUS g.24718729A>G - SPECC1L(NM_015330.6):c.1781A>G (p.Y594C) - SPECC1L_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.2157G>C r.(?) - Unknown - VUS g.24718797G>C g.24322829G>C SPECC1L(NM_001145468.2):c.1849G>C (p.(Glu617Gln)) - SPECC1L-ADORA2A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.2311C>T r.(?) - Unknown - likely benign g.24720252C>T g.24324284C>T SPECC1L(NM_001145468.2):c.2003C>T (p.(Thr668Met)), SPECC1L(NM_015330.6):c.2003C>T (p.T668M) - SPECC1L-ADORA2A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.2311C>T r.(?) - Unknown - VUS g.24720252C>T - SPECC1L(NM_001145468.2):c.2003C>T (p.(Thr668Met)), SPECC1L(NM_015330.6):c.2003C>T (p.T668M) - SPECC1L-ADORA2A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.2383A>G r.(?) - Unknown - VUS g.24720324A>G - SPECC1L(NM_015330.6):c.2075A>G (p.E692G) - SPECC1L-ADORA2A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.2640T>A r.(?) - Unknown - VUS g.24726335T>A - SPECC1L(NM_015330.6):c.2332T>A (p.(Leu778Ile)) - SPECC1L-ADORA2A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.2868+46C>T r.(?) - Unknown - benign g.24730587C>T - SPECC1L(NM_015330.4):c.2560+46C>T - SPECC1L_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.2899G>A r.(?) - Unknown - VUS g.24734384G>A - SPECC1L(NM_015330.6):c.2591G>A (p.R864Q) - SPECC1L-ADORA2A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.3104A>G r.(?) - Unknown - likely benign g.24743075A>G g.24347107A>G SPECC1L(NM_001145468.2):c.2674A>G (p.(Ile892Val)) - SPECC1L-ADORA2A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.3174-3379A>G r.(?) - Unknown - benign g.24755850A>G - SPECC1L(NM_015330.4):c.2744-3379A>G - SPECC1L_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.3231C>T r.(?) - Unknown - likely benign g.24759286C>T - SPECC1L(NM_015330.6):c.2801C>T (p.A934V) - SPECC1L_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.3281= r.(=) - Unknown - benign g.24761467G>A g.24365499G>A SPECC1L(NM_015330.6):c.2851G>A (p.V951M), SPECC1L-ADORA2A(NR_103546.1):n.3281G>A - SPECC1L_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.3288G>A r.(?) - Unknown - VUS g.24761474G>A - SPECC1L(NM_015330.6):c.2858G>A (p.R953Q) - SPECC1L-ADORA2A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.3312C>T r.(?) - Unknown - likely benign g.24761498C>T g.24365530C>T SPECC1L(NM_001145468.2):c.2882C>T (p.(Ala961Val)) - SPECC1L-ADORA2A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.3414+3A>G r.(?) - Unknown - VUS g.24761603A>G - SPECC1L(NM_015330.4):c.2984+3A>G (p.?) - SPECC1L-ADORA2A_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.3447C>T r.(?) - Unknown - VUS g.24765218C>T - SPECC1L(NM_015330.4):c.3017C>T (p.A1006V) - SPECC1L_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.3481G>A r.(?) - Unknown - likely benign g.24765252G>A g.24369284G>A SPECC1L(NM_015330.4):c.3051G>A (p.L1017=) - SPECC1L-ADORA2A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.3602A>G r.(?) - Unknown - VUS g.24807640A>G - SPECC1L(NM_015330.4):c.3172A>G (p.(Ile1058Val)) - SPECC1L-ADORA2A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.3624G>C r.(?) - Unknown - VUS g.24807662G>C - SPECC1L(NM_015330.6):c.3194G>C (p.S1065T) - SPECC1L-ADORA2A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.3635-181G>A r.(?) - Unknown - benign g.24808435G>A - SPECC1L(NM_015330.4):c.3205-181G>A - SPECC1L_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.3647A>T r.(?) - Unknown - likely benign g.24808628A>T - SPECC1L(NM_015330.6):c.3217A>T (p.M1073L) - SPECC1L-ADORA2A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.3662G>A r.(?) - Unknown - VUS g.24808643G>A - SPECC1L(NM_015330.6):c.3232G>A (p.A1078T) - SPECC1L-ADORA2A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.3677G>A r.(?) - Unknown - VUS g.24808658G>A - SPECC1L(NM_015330.6):c.3247G>A (p.(Gly1083Ser)) - SPECC1L_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - n.3682C>G r.(?) - Unknown - likely pathogenic g.24808663C>G g.24412695C>G - - SPECC1L-ADORA2A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - n.3685A>T r.(?) - Unknown - VUS g.24808666A>T - SPECC1L(NM_015330.6):c.3255A>T (p.K1085N) - SPECC1L-ADORA2A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - n.3740G>A r.(?) - Unknown - likely benign g.24810547G>A - SPECC1L(NM_015330.6):c.3310G>A (p.V1104M) - SPECC1L-ADORA2A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.3905+955G>A r.(?) - Unknown - benign g.24811667G>A - SPECC1L(NM_015330.4):c.*1076G>A - SPECC1L_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - n.5262T>C r.(?) - Unknown - benign g.24837301T>C g.24441333T>C ADORA2A(NM_001278497.2):c.1083T>C (p.Y361=), ADORA2A-AS1(NR_028484.3):n.833+659A>G, SPECC1L-ADORA2A(NR_103546.1):n.5262T>C - ADORA2A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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