ClinVar for MedGen (Select 1782096) - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382410	NM_001394372.1(BICRA):c.1642C>T (p.Gln548Ter)	BICRA (Q548*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 12	GUncertain significance
Select item 3381244	NM_001394372.1(BICRA):c.1375G>A (p.Val459Ile)	BICRA (V459I)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 12	GUncertain significance
Select item 3381238	NM_001394372.1(BICRA):c.2753_2754insC (p.Lys918fs)	BICRA (K918fs)	Insertion (frameshift variant)	Coffin-Siris syndrome 12	GLikely pathogenic
Select item 3376496	NM_001394372.1(BICRA):c.2018G>C (p.Ser673Thr)	BICRA (S673T)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 12	GLikely pathogenic
Select item 3376471	NM_001394372.1(BICRA):c.104T>C (p.Leu35Pro)	BICRA (L35P)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 12	GUncertain significance
Select item 3376349	NM_001394372.1(BICRA):c.2317C>T (p.Pro773Ser)	BICRA (P773S)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 12	GUncertain significance
Select item 3376264	NM_001394372.1(BICRA):c.3631C>G (p.Pro1211Ala)	BICRA (P1211A)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 12	GUncertain significance
Select item 3376134	NM_001394372.1(BICRA):c.1163del (p.Pro388fs)	BICRA (P388fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 12	GPathogenic
Select item 3238657	NM_001394372.1(BICRA):c.3246del (p.Cys1083fs)	BICRA (C1083fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 12	GLikely pathogenic
Select item 3234883	NM_001394372.1(BICRA):c.1225G>T (p.Val409Leu)	BICRA (V409L)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 12	GUncertain significance
Select item 3234861	NM_001394372.1(BICRA):c.1958C>A (p.Pro653Gln)	BICRA (P653Q)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 12	GUncertain significance
Select item 3061917	NM_001394372.1(BICRA):c.3941_3948dup (p.Gly1317fs)	BICRA (G1317fs)	Duplication (frameshift variant)	Coffin-Siris syndrome 12	GUncertain significance
Select item 2692500	NM_001394372.1(BICRA):c.1214_1215insT (p.Gln407fs)	BICRA (Q407fs)	Insertion (frameshift variant)	Coffin-Siris syndrome 12	GPathogenic
Select item 2691554	NM_001394372.1(BICRA):c.3300C>A (p.Tyr1100Ter)	BICRA (Y1100*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 12	GPathogenic
Select item 2688669	NM_001394372.1(BICRA):c.334A>G (p.Asn112Asp)	BICRA (N112D)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 12	GUncertain significance
Select item 2688668	NM_001394372.1(BICRA):c.937G>C (p.Ala313Pro)	BICRA (A313P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2578532	NM_001394372.1(BICRA):c.2428G>A (p.Val810Met)	BICRA (V810M)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 12	GUncertain significance
Select item 2512118	NM_001394372.1(BICRA):c.2603C>T (p.Pro868Leu)	BICRA (P868L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2504585	GRCh37/hg19 19q13.33(chr19:48197371-48246391)	BICRA, EHD2	Copy number loss	Coffin-Siris syndrome 12	GLikely pathogenic
Select item 2504584	NM_001394372.1(BICRA):c.4649_4661dup (p.Ala1555fs)	BICRA (A1555fs)	Duplication (frameshift variant)	Coffin-Siris syndrome 12	GUncertain significance
Select item 2504583	NM_001394372.1(BICRA):c.2734_2737del (p.Pro912fs)	BICRA (P912fs)	Microsatellite (frameshift variant)	Coffin-Siris syndrome 12	GLikely pathogenic
Select item 2504582	NM_001394372.1(BICRA):c.639_669del (p.Leu214fs)	BICRA (L214fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 12	GPathogenic
Select item 2504578	GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409)	AP2S1, ARHGAP35 +25 more	Copy number gain	Coffin-Siris syndrome 12	GLikely pathogenic
Select item 2441686	NM_001394372.1(BICRA):c.1933C>T (p.Gln645Ter)	BICRA (Q645*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 12	GLikely pathogenic
Select item 2439517	NM_001394372.1(BICRA):c.3081C>T (p.Leu1027=)	BICRA	Single nucleotide variant (synonymous variant)	Coffin-Siris syndrome 12	GUncertain significance
Select item 2439516	NM_001394372.1(BICRA):c.4253C>T (p.Pro1418Leu)	BICRA (P1418L)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 12	GUncertain significance
Select item 2439515	NM_001394372.1(BICRA):c.2774C>T (p.Thr925Ile)	BICRA (T925I)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 12	GUncertain significance
Select item 2431743	NM_001394372.1(BICRA):c.3676C>T (p.Pro1226Ser)	BICRA (P1226S)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 12	GUncertain significance
Select item 2430189	NM_001394372.1(BICRA):c.145C>T (p.Pro49Ser)	BICRA (P49S)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 12	GUncertain significance
Select item 1810186	NM_001394372.1(BICRA):c.1224C>A (p.Asn408Lys)	BICRA (N408K)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 12 +1 more	GUncertain significance
Select item 1801369	NM_001394372.1(BICRA):c.1509_1510insA (p.His504fs)	BICRA (H504fs)	Insertion (frameshift variant)	Coffin-Siris syndrome 12	GLikely pathogenic
Select item 1801348	NM_001394372.1(BICRA):c.1921C>T (p.Gln641Ter)	BICRA (Q641*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 12	GPathogenic
Select item 1709595	NM_001394372.1(BICRA):c.1614C>A (p.Ser538Arg)	BICRA (S538R)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 12	GUncertain significance
Select item 1709325	NM_001394372.1(BICRA):c.2434C>T (p.Arg812Cys)	BICRA (R812C)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 12	GUncertain significance
Select item 1708048	NM_001394372.1(BICRA):c.974_987dup (p.Gly330fs)	BICRA (G330fs)	Duplication (frameshift variant)	Coffin-Siris syndrome 12	GPathogenic
Select item 1701716	NM_001394372.1(BICRA):c.2370C>G (p.His790Gln)	BICRA (H790Q)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 12	GUncertain significance
Select item 1701688	NM_001394372.1(BICRA):c.2404C>T (p.Arg802Cys)	BICRA (R802C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1700052	NM_001394372.1(BICRA):c.4343dup (p.Pro1449fs)	BICRA (P1449fs)	Duplication (frameshift variant)	Coffin-Siris syndrome 12	GLikely pathogenic
Select item 1700051	NM_001394372.1(BICRA):c.3529C>T (p.Arg1177Ter)	BICRA, LOC121627883 (R1177*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 12	GLikely pathogenic
Select item 1696599	NM_001394372.1(BICRA):c.4565C>T (p.Ser1522Leu)	BICRA (S1522L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1685570	NM_001394372.1(BICRA):c.3248+1G>A	BICRA	Single nucleotide variant (splice donor variant)	Coffin-Siris syndrome 12	GPathogenic
Select item 1682848	NM_001394372.1(BICRA):c.515C>T (p.Pro172Leu)	BICRA (P172L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1308646	NM_001394372.1(BICRA):c.386_401del (p.Phe129fs)	BICRA (F129fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 12	GLikely pathogenic
Select item 1106681	NM_001394372.1(BICRA):c.192G>C (p.Glu64Asp)	BICRA (E64D)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 12	GPathogenic
Select item 1106678	NM_001394372.1(BICRA):c.2479_2480delinsA (p.Ala827fs)	BICRA (A827fs)	Indel (frameshift variant)	Coffin-Siris syndrome 12	GPathogenic
Select item 1106676	NM_001394372.1(BICRA):c.1993C>T (p.Gln665Ter)	BICRA (Q665*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 12	GPathogenic
Select item 1012211	NM_001394372.1(BICRA):c.936del (p.Ala313fs)	BICRA (A313fs)	Deletion (frameshift variant)	BICRA-related disorder	GUncertain significance
Select item 996135	NM_001394372.1(BICRA):c.3247dup (p.Cys1083fs)	BICRA (C1083fs)	Duplication (frameshift variant)	Intellectual disability +1 more	GPathogenic

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Items: 48