SRCAP[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	RUSF1-DT, SETD1A +136 more	Copy number gain	See cases	GPathogenic
Select item 2580156	NM_006662.3(SRCAP):c.-284+1G>T	SRCAP	Single nucleotide variant (splice donor variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	GUncertain significance
Select item 1281215	NM_006662.3(SRCAP):c.-209-255A>C	SRCAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268985	NM_006662.3(SRCAP):c.-209-149G>C	SRCAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2503177	NM_006662.3(SRCAP):c.-209-1G>C	SRCAP	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1691743	NM_006662.3(SRCAP):c.11G>A (p.Ser4Asn)	SRCAP (S4N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932238	NM_006662.3(SRCAP):c.18C>T (p.Ser6=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1387471	NM_006662.3(SRCAP):c.23C>G (p.Ala8Gly)	SRCAP (A8G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960864	NM_006662.3(SRCAP):c.33G>A (p.Gln11=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1486146	NM_006662.3(SRCAP):c.43C>G (p.Leu15Val)	SRCAP (L15V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181137	NM_006662.3(SRCAP):c.45A>G (p.Leu15=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867100	NM_006662.3(SRCAP):c.49A>G (p.Thr17Ala)	SRCAP (T17A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806009	NM_006662.3(SRCAP):c.54+17A>T	SRCAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1304879	NM_006662.3(SRCAP):c.54+73G>T	SRCAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1304889	NM_006662.3(SRCAP):c.54+122C>A	SRCAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251888	NM_006662.3(SRCAP):c.54+206C>T	SRCAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1304897	NM_006662.3(SRCAP):c.55-109A>C	SRCAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1540261	NM_006662.3(SRCAP):c.55-20A>G	SRCAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968782	NM_006662.3(SRCAP):c.55-14T>G	SRCAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984970	NM_006662.3(SRCAP):c.55-12C>T	SRCAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 740799	NM_006662.3(SRCAP):c.55-9C>T	SRCAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 995426	NM_006662.3(SRCAP):c.55-1G>A	SRCAP	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 197283	NM_006662.3(SRCAP):c.62C>T (p.Ser21Leu)	SRCAP (S21L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2086282	NM_006662.3(SRCAP):c.63G>A (p.Ser21=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2504377	NM_006662.3(SRCAP):c.65A>G (p.Asp22Gly)	SRCAP (D22G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1916442	NM_006662.3(SRCAP):c.66C>T (p.Asp22=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1532725	NM_006662.3(SRCAP):c.67G>A (p.Gly23Ser)	SRCAP (G23S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 848068	NM_006662.3(SRCAP):c.77G>A (p.Gly26Asp)	SRCAP (G26D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 770253	NM_006662.3(SRCAP):c.87T>C (p.Pro29=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2001020	NM_006662.3(SRCAP):c.95C>T (p.Pro32Leu)	SRCAP (P32L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999079	NM_006662.3(SRCAP):c.112C>G (p.Pro38Ala)	SRCAP (P38A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 160032	NM_006662.3(SRCAP):c.132C>T (p.Gly44=)	SRCAP	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2792065	NM_006662.3(SRCAP):c.133G>A (p.Gly45Ser)	SRCAP (G45S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1376983	NM_006662.3(SRCAP):c.143C>T (p.Pro48Leu)	SRCAP (P48L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2987683	NM_006662.3(SRCAP):c.144G>A (p.Pro48=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 995439	NM_006662.3(SRCAP):c.148del (p.His50fs)	SRCAP (H50fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2211677	NM_006662.3(SRCAP):c.152T>C (p.Ile51Thr)	SRCAP (I51T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1976017	NM_006662.3(SRCAP):c.163T>G (p.Ser55Ala)	SRCAP (S55A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1345052	NM_006662.3(SRCAP):c.166T>A (p.Ser56Thr)	SRCAP (S56T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 732701	NM_006662.3(SRCAP):c.168A>C (p.Ser56=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187228	NM_006662.3(SRCAP):c.169C>T (p.Leu57=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 743534	NM_006662.3(SRCAP):c.189C>A (p.Pro63=)	SRCAP	Single nucleotide variant (synonymous variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +2 more	GLikely benign
Select item 160033	NM_006662.3(SRCAP):c.189C>G (p.Pro63=)	SRCAP	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1030125	NM_006662.3(SRCAP):c.196G>A (p.Gly66Ser)	SRCAP (G66S)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance
Select item 2164108	NM_006662.3(SRCAP):c.197G>A (p.Gly66Asp)	SRCAP (G66D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499784	NM_006662.3(SRCAP):c.212T>C (p.Leu71Pro)	SRCAP (L71P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2536385	NM_006662.3(SRCAP):c.224G>C (p.Ser75Thr)	SRCAP (S75T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551183	NM_006662.3(SRCAP):c.241G>C (p.Asp81His)	SRCAP (D81H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1308276	NM_006662.3(SRCAP):c.257G>C (p.Gly86Ala)	SRCAP (G86A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2729835	NM_006662.3(SRCAP):c.278A>C (p.His93Pro)	SRCAP (H93P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1421672	NM_006662.3(SRCAP):c.278A>G (p.His93Arg)	SRCAP (H93R)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +2 more	GUncertain significance
Select item 1910215	NM_006662.3(SRCAP):c.282C>T (p.Ala94=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015787	NM_006662.3(SRCAP):c.294A>G (p.Glu98=)	SRCAP	Single nucleotide variant (synonymous variant)	SRCAP-related condition +1 more	GLikely benign
Select item 1954964	NM_006662.3(SRCAP):c.295C>G (p.Gln99Glu)	SRCAP (Q99E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022258	NM_006662.3(SRCAP):c.303G>A (p.Lys101=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 318854	NM_006662.3(SRCAP):c.306+4C>T	SRCAP	Single nucleotide variant (intron variant)	Floating-Harbor syndrome +2 more	GBenign
Select item 1256907	NM_006662.3(SRCAP):c.306+272T>C	SRCAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 318855	NM_006662.3(SRCAP):c.307-7T>C	SRCAP	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2176704	NM_006662.3(SRCAP):c.312C>T (p.Ala104=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1033132	NM_006662.3(SRCAP):c.316A>G (p.Ile106Val)	SRCAP (I106V)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance
Select item 1664182	NM_006662.3(SRCAP):c.318C>T (p.Ile106=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1504385	NM_006662.3(SRCAP):c.336G>C (p.Glu112Asp)	SRCAP (E112D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014715	NM_006662.3(SRCAP):c.384A>G (p.Pro128=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637660	NM_006662.3(SRCAP):c.391C>G (p.Pro131Ala)	SRCAP (P131A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2430997	NM_006662.3(SRCAP):c.392C>G (p.Pro131Arg)	SRCAP (P131R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886178	NM_006662.3(SRCAP):c.394C>T (p.Arg132Cys)	SRCAP (R132C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918875	NM_006662.3(SRCAP):c.423C>T (p.Cys141=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019834	NM_006662.3(SRCAP):c.435G>A (p.Gln145=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 995441	NM_006662.3(SRCAP):c.435del (p.Gln145fs)	SRCAP (Q145fs)	Deletion (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2820295	NM_006662.3(SRCAP):c.441C>T (p.Leu147=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2234296	NM_006662.3(SRCAP):c.476G>A (p.Arg159Gln)	SRCAP (R159Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1389548	NM_006662.3(SRCAP):c.488_492+7dup	SRCAP	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 1437058	NM_006662.3(SRCAP):c.492+3A>G	SRCAP	Single nucleotide variant (intron variant)	Floating-Harbor syndrome +2 more	GUncertain significance
Select item 753188	NM_006662.3(SRCAP):c.492+9T>G	SRCAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2627252	NM_006662.3(SRCAP):c.492+11C>A	SRCAP	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1598802	NM_006662.3(SRCAP):c.492+11C>T	SRCAP	Single nucleotide variant (intron variant)	Floating-Harbor syndrome +2 more	GBenign/Likely benign
Select item 1651791	NM_006662.3(SRCAP):c.492+12G>A	SRCAP	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1387069	NM_006662.3(SRCAP):c.492+15G>A	SRCAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 260018	NM_006662.3(SRCAP):c.493-20C>T	SRCAP	Single nucleotide variant (intron variant)	Floating-Harbor syndrome +3 more	GBenign
Select item 760849	NM_006662.3(SRCAP):c.493-4A>G	SRCAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 748217	NM_006662.3(SRCAP):c.498G>A (p.Val166=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966060	NM_006662.3(SRCAP):c.519C>T (p.His173=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1443399	NM_006662.3(SRCAP):c.536A>G (p.Lys179Arg)	SRCAP (K179R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1982513	NM_006662.3(SRCAP):c.546G>C (p.Arg182=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2097841	NM_006662.3(SRCAP):c.550C>G (p.Arg184Gly)	SRCAP (R184G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 749960	NM_006662.3(SRCAP):c.558G>A (p.Glu186=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2167646	NM_006662.3(SRCAP):c.560A>G (p.Glu187Gly)	SRCAP (E187G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1348016	NM_006662.3(SRCAP):c.563A>G (p.Gln188Arg)	SRCAP (Q188R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 747345	NM_006662.3(SRCAP):c.564G>A (p.Gln188=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2099559	NM_006662.3(SRCAP):c.577C>T (p.Arg193Ter)	SRCAP (R193*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2646386	NM_006662.3(SRCAP):c.588C>T (p.Ser196=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1582866	NM_006662.3(SRCAP):c.606C>T (p.Val202=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985818	NM_006662.3(SRCAP):c.608G>A (p.Arg203Lys)	SRCAP (R203K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 746848	NM_006662.3(SRCAP):c.633+9T>C	SRCAP	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1916174	NM_006662.3(SRCAP):c.634-20C>A	SRCAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2024366	NM_006662.3(SRCAP):c.634-9C>T	SRCAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1801106	NM_006662.3(SRCAP):c.640C>G (p.Gln214Glu)	SRCAP (Q214E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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