Related gene-specific medical variations for Gene (Select 10847) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065814	NM_006662.3(SRCAP):c.955C>T (p.Arg319Cys)	SRCAP (R319C)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GLikely benign
Select item 3065451	NM_006662.3(SRCAP):c.3547G>A (p.Glu1183Lys)	SRCAP (E1183K)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GLikely benign
Select item 3064913	NM_006662.3(SRCAP):c.4429A>G (p.Thr1477Ala)	SRCAP (T1477A)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance
Select item 3064470	NM_006662.3(SRCAP):c.7409C>A (p.Ala2470Asp)	SRCAP (A2470D)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance
Select item 3064380	NM_006662.3(SRCAP):c.5594C>T (p.Thr1865Ile)	SRCAP (T1865I)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance
Select item 2690757	NM_006662.3(SRCAP):c.2191dup (p.Asp731fs)	SRCAP (D731fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2690157	NM_006662.3(SRCAP):c.3906G>C (p.Met1302Ile)	SRCAP (M1302I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2584662	NM_006662.3(SRCAP):c.9490G>A (p.Gly3164Arg)	SRCAP (G3164R)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance
Select item 2573051	NM_006662.3(SRCAP):c.3919G>A (p.Gly1307Ser)	SRCAP (G1307S)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	GUncertain significance
Select item 2442099	NM_006662.3(SRCAP):c.8303G>T (p.Arg2768Leu)	SRCAP (R2768L)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance
Select item 2442052	NM_006662.3(SRCAP):c.5470G>A (p.Val1824Met)	SRCAP (V1824M)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance
Select item 2436489	NM_006662.3(SRCAP):c.5956C>T (p.Pro1986Ser)	SRCAP (P1986S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436488	NM_006662.3(SRCAP):c.2272C>T (p.Arg758Cys)	SRCAP (R758C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436487	NM_006662.3(SRCAP):c.5501C>A (p.Pro1834His)	SRCAP (P1834H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436486	NM_006662.3(SRCAP):c.1507C>G (p.Arg503Gly)	SRCAP (R503G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436484	NM_006662.3(SRCAP):c.8129C>T (p.Ser2710Leu)	SRCAP (S2710L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436482	NM_006662.3(SRCAP):c.3720C>A (p.His1240Gln)	SRCAP (H1240Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436480	NM_006662.3(SRCAP):c.8204C>G (p.Thr2735Ser)	SRCAP (T2735S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436479	NM_006662.3(SRCAP):c.4927G>A (p.Ala1643Thr)	SRCAP (A1643T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436477	NM_006662.3(SRCAP):c.4007C>T (p.Ser1336Phe)	SRCAP (S1336F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436475	NM_006662.3(SRCAP):c.8921C>T (p.Pro2974Leu)	SRCAP (P2974L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436474	NM_006662.3(SRCAP):c.8048C>T (p.Pro2683Leu)	SRCAP (P2683L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436473	NM_006662.3(SRCAP):c.1402G>C (p.Asp468His)	SRCAP (D468H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429905	NM_006662.3(SRCAP):c.3734G>T (p.Gly1245Val)	SRCAP (G1245V)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GUncertain significance
Select item 1992341	NM_006662.3(SRCAP):c.5690_5697del (p.Arg1897fs)	SRCAP (R1897fs)	Deletion (frameshift variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	GPathogenic
Select item 1803093	NM_006662.3(SRCAP):c.3628C>T (p.Gln1210Ter)	SRCAP (Q1210*)	Single nucleotide variant (nonsense)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	GLikely pathogenic
Select item 1690334	NM_006662.3(SRCAP):c.3989C>T (p.Ala1330Val)	SRCAP (A1330V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1676575	NM_006662.3(SRCAP):c.633+13G>T	SRCAP	Single nucleotide variant	not provided	GUncertain significance
Select item 1325599	NM_006662.3(SRCAP):c.7744C>G (p.Pro2582Ala)	SRCAP (P2582A)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance
Select item 1325597	NM_006662.3(SRCAP):c.3179T>G (p.Leu1060Arg)	SRCAP (L1060R)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance
Select item 998019	NM_006662.3(SRCAP):c.7189G>T (p.Glu2397Ter)	SRCAP (E2397*)	Single nucleotide variant (nonsense)	Floating-Harbor syndrome	GPathogenic
Select item 978143	NM_006662.3(SRCAP):c.9505G>C (p.Val3169Leu)	SRCAP (V3169L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 975471	NM_006662.3(SRCAP):c.5285C>A (p.Pro1762Gln)	SRCAP (P1762Q)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 930450	NM_006662.3(SRCAP):c.5704G>A (p.Glu1902Lys)	SRCAP (E1902K)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance
Select item 871893	NM_006662.3(SRCAP):c.6709C>T (p.Gln2237Ter)	SRCAP (Q2237*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 813677	NM_006662.3(SRCAP):c.4415T>A (p.Leu1472Gln)	SRCAP (L1472Q)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 591661	NM_006662.3(SRCAP):c.1722_1736del (p.Thr576_Pro580del)	SRCAP	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 260019	NM_006662.3(SRCAP):c.5343C>T (p.Ala1781=)	SRCAP	Single nucleotide variant (synonymous variant)	not specified	GLikely benign

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Links from Gene

Items: 38