ClinVar for MedGen (Select 152667) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237540	NM_006662.3(SRCAP):c.2990T>C (p.Met997Thr)	SRCAP (M997T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 3024229	NM_006662.3(SRCAP):c.1319del	SRCAP	Deletion (splice acceptor variant)	Floating-Harbor syndrome +1 more	GPathogenic
Select item 2664695	NM_006662.3(SRCAP):c.7215_7216del (p.Glu2405fs)	SRCAP (E2405fs)	Microsatellite (frameshift variant)	Floating-Harbor syndrome	GPathogenic
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 2444093	NM_006662.3(SRCAP):c.7236_7237del (p.Pro2413fs)	SRCAP (P2413fs)	Deletion (frameshift variant)	Floating-Harbor syndrome	GLikely pathogenic
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 2412742	NM_006662.3(SRCAP):c.7364del (p.Pro2455fs)	SRCAP (P2455fs)	Deletion (frameshift variant)	Floating-Harbor syndrome	GLikely pathogenic
Select item 1802599	NM_006662.3(SRCAP):c.7937_7938del (p.Val2646fs)	SRCAP (V2646fs)	Microsatellite (frameshift variant)	Floating-Harbor syndrome	GLikely pathogenic
Select item 1710499	NM_006662.3(SRCAP):c.6710A>C (p.Gln2237Pro)	SRCAP (Q2237P)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance
Select item 1699376	NM_006662.3(SRCAP):c.1693G>A (p.Asp565Asn)	SRCAP (D565N)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance
Select item 1683642	NM_006662.3(SRCAP):c.2816A>G (p.Gln939Arg)	SRCAP (Q939R)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance
Select item 1675184	NM_006662.3(SRCAP):c.7864C>T (p.Gln2622Ter)	SRCAP (Q2622*)	Single nucleotide variant (nonsense)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +1 more	GPathogenic
Select item 1664289	NM_006662.3(SRCAP):c.6495-5C>G	SRCAP	Single nucleotide variant (intron variant)	Floating-Harbor syndrome +2 more	GBenign/Likely benign
Select item 1661118	NM_006662.3(SRCAP):c.5658+15C>T	SRCAP	Single nucleotide variant (intron variant)	Floating-Harbor syndrome +2 more	GLikely benign
Select item 1659633	NM_006662.3(SRCAP):c.8373G>A (p.Pro2791=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely 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 1602573	NM_006662.3(SRCAP):c.4088C>G (p.Ala1363Gly)	SRCAP (A1363G)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome +3 more	GBenign/Likely benign
Select item 1599309	NM_006662.3(SRCAP):c.2328T>C (p.Thr776=)	SRCAP	Single nucleotide variant (synonymous variant)	Floating-Harbor syndrome +2 more	GBenign/Likely benign
Select item 1598807	NM_006662.3(SRCAP):c.8406C>T (p.Ser2802=)	SRCAP	Single nucleotide variant (synonymous variant)	Floating-Harbor syndrome +2 more	GBenign/Likely 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 1598271	NM_006662.3(SRCAP):c.1614C>T (p.Ser538=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1597157	NM_006662.3(SRCAP):c.2655C>A (p.Gly885=)	SRCAP	Single nucleotide variant (synonymous variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +2 more	GLikely benign
Select item 1596690	NM_006662.3(SRCAP):c.3183T>C (p.Ile1061=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1594846	NM_006662.3(SRCAP):c.1135-14C>T	SRCAP	Single nucleotide variant (intron variant)	Floating-Harbor syndrome +2 more	GBenign/Likely benign
Select item 1592441	NM_006662.3(SRCAP):c.3519C>T (p.Pro1173=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1592040	NM_006662.3(SRCAP):c.8982C>G (p.Thr2994=)	SRCAP	Single nucleotide variant (synonymous variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +2 more	GBenign/Likely benign
Select item 1590996	NM_006662.3(SRCAP):c.5340G>C (p.Leu1780=)	SRCAP	Single nucleotide variant (synonymous variant)	Floating-Harbor syndrome +2 more	GLikely benign
Select item 1581541	NM_006662.3(SRCAP):c.7777C>T (p.Leu2593=)	SRCAP	Single nucleotide variant (synonymous variant)	Floating-Harbor syndrome +2 more	GBenign/Likely benign
Select item 1561223	NM_006662.3(SRCAP):c.6664G>A (p.Val2222Met)	SRCAP (V2222M)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +2 more	GBenign/Likely benign
Select item 1559204	NM_006662.3(SRCAP):c.3542-5T>C	SRCAP	Single nucleotide variant (intron variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +2 more	GLikely benign
Select item 1558795	NM_006662.3(SRCAP):c.8535C>T (p.Asp2845=)	SRCAP	Single nucleotide variant (synonymous variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +2 more	GLikely benign
Select item 1551169	NM_006662.3(SRCAP):c.9562C>T (p.Arg3188Cys)	SRCAP (R3188C)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +2 more	GLikely benign
Select item 1548458	NM_006662.3(SRCAP):c.7850C>T (p.Pro2617Leu)	SRCAP (P2617L)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +3 more	GLikely benign
Select item 1540891	NM_006662.3(SRCAP):c.5322G>A (p.Ser1774=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1529702	NM_006662.3(SRCAP):c.8387T>C (p.Met2796Thr)	SRCAP (M2796T)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1509735	NM_006662.3(SRCAP):c.8414T>C (p.Ile2805Thr)	SRCAP (I2805T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1504102	NM_006662.3(SRCAP):c.4243A>C (p.Met1415Leu)	SRCAP (M1415L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1501185	NM_006662.3(SRCAP):c.6050G>A (p.Arg2017Gln)	SRCAP (R2017Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1501065	NM_006662.3(SRCAP):c.5477C>T (p.Ser1826Leu)	SRCAP (S1826L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1500984	NM_006662.3(SRCAP):c.5150C>T (p.Ser1717Leu)	SRCAP (S1717L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1497378	NM_006662.3(SRCAP):c.2956C>T (p.Arg986Trp)	SRCAP (R986W)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome +2 more	GUncertain significance
Select item 1495414	NM_006662.3(SRCAP):c.8693C>G (p.Pro2898Arg)	SRCAP (P2898R)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome +2 more	GUncertain significance
Select item 1490247	NM_006662.3(SRCAP):c.2130+6A>T	SRCAP	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 1488164	NM_006662.3(SRCAP):c.9193C>T (p.Arg3065Cys)	SRCAP (R3065C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1475566	NM_006662.3(SRCAP):c.8798C>T (p.Pro2933Leu)	SRCAP (P2933L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1463939	NM_006662.3(SRCAP):c.5404G>A (p.Ala1802Thr)	SRCAP (A1802T)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +2 more	GUncertain significance
Select item 1450718	NM_006662.3(SRCAP):c.3025G>C (p.Val1009Leu)	SRCAP (V1009L)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +2 more	GUncertain significance
Select item 1445726	NM_006662.3(SRCAP):c.5707C>T (p.Arg1903Trp)	SRCAP (R1903W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1444174	NM_006662.3(SRCAP):c.5518C>T (p.Arg1840Trp)	SRCAP (R1840W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1441746	NM_006662.3(SRCAP):c.2648C>G (p.Ala883Gly)	SRCAP (A883G)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +3 more	GConflicting classifications of pathogenicity
Select item 1437058	NM_006662.3(SRCAP):c.492+3A>G	SRCAP	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 1421672	NM_006662.3(SRCAP):c.278A>G (p.His93Arg)	SRCAP (H93R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1419664	NM_006662.3(SRCAP):c.3481G>A (p.Ala1161Thr)	SRCAP (A1161T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1415385	NM_006662.3(SRCAP):c.5216C>T (p.Pro1739Leu)	SRCAP (P1739L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1399614	NM_006662.3(SRCAP):c.3587G>A (p.Arg1196His)	SRCAP (R1196H)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +2 more	GUncertain significance
Select item 1398890	NM_006662.3(SRCAP):c.2897G>A (p.Arg966Gln)	SRCAP (R966Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1397019	NM_006662.3(SRCAP):c.4471C>T (p.Pro1491Ser)	SRCAP (P1491S)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome +2 more	GUncertain significance
Select item 1394923	NM_006662.3(SRCAP):c.9497A>T (p.Glu3166Val)	SRCAP (E3166V)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1378533	NM_006662.3(SRCAP):c.8989A>G (p.Thr2997Ala)	SRCAP (T2997A)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +3 more	GConflicting classifications of pathogenicity
Select item 1369848	NM_006662.3(SRCAP):c.7352C>T (p.Pro2451Leu)	SRCAP (P2451L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1368026	NM_006662.3(SRCAP):c.5850_5851insATT (p.Thr1950_Tyr1951insIle)	SRCAP	Insertion (inframe_insertion)	Floating-Harbor syndrome +2 more	GUncertain significance
Select item 1360518	NM_006662.3(SRCAP):c.1611G>C (p.Gln537His)	SRCAP (Q537H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1359277	NM_006662.3(SRCAP):c.3254T>C (p.Val1085Ala)	SRCAP (V1085A)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +3 more	GConflicting classifications of pathogenicity
Select item 1356196	NM_006662.3(SRCAP):c.4588A>G (p.Thr1530Ala)	SRCAP (T1530A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1356054	NM_006662.3(SRCAP):c.4723C>T (p.Pro1575Ser)	SRCAP (P1575S)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +2 more	GUncertain significance
Select item 1355600	NM_006662.3(SRCAP):c.2402G>A (p.Arg801His)	SRCAP (R801H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1352888	NM_006662.3(SRCAP):c.2883C>T (p.Asp961=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1352247	NM_006662.3(SRCAP):c.6157C>T (p.Arg2053Trp)	SRCAP (R2053W)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome +2 more	GUncertain significance
Select item 1347550	NM_006662.3(SRCAP):c.3050C>T (p.Ala1017Val)	SRCAP (A1017V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1343616	NM_006662.3(SRCAP):c.8405C>T (p.Ser2802Phe)	SRCAP (S2802F)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1343288	NM_006662.3(SRCAP):c.4243dup (p.Met1415fs)	SRCAP (M1415fs)	Duplication (frameshift variant)	Floating-Harbor syndrome	GUncertain significance
Select item 1342445	NM_006662.3(SRCAP):c.5612G>A (p.Arg1871Gln)	SRCAP (R1871Q)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome +1 more	GUncertain significance
Select item 1334613	NM_006662.3(SRCAP):c.1279G>A (p.Val427Met)	SRCAP (V427M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1333122	NM_006662.3(SRCAP):c.2064G>T (p.Arg688=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 1320326	NM_006662.3(SRCAP):c.7218dup (p.Gln2407fs)	SRCAP (Q2407fs)	Duplication (frameshift variant)	Floating-Harbor syndrome	GPathogenic
Select item 1213756	NM_006662.3(SRCAP):c.5282G>C (p.Gly1761Ala)	SRCAP (G1761A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1184936	NM_006662.3(SRCAP):c.9229C>T (p.Arg3077Ter)	SRCAP (R3077*)	Single nucleotide variant (nonsense)	Floating-Harbor syndrome	GLikely pathogenic
Select item 1033133	NM_006662.3(SRCAP):c.3721C>T (p.Leu1241Phe)	SRCAP (L1241F)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance
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 1033131	NM_006662.3(SRCAP):c.2125C>T (p.Arg709Trp)	SRCAP (R709W)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome +2 more	GUncertain significance
Select item 1030129	NM_006662.3(SRCAP):c.954G>T (p.Arg318Ser)	SRCAP (R318S)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance
Select item 1030128	NM_006662.3(SRCAP):c.5813C>G (p.Pro1938Arg)	SRCAP (P1938R)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance
Select item 1030126	NM_006662.3(SRCAP):c.4105A>T (p.Thr1369Ser)	SRCAP (T1369S)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance
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 1030124	NM_006662.3(SRCAP):c.1429T>A (p.Cys477Ser)	SRCAP (C477S)	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 996887	NM_006662.3(SRCAP):c.1073A>G (p.Asp358Gly)	SRCAP (D358G)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome +1 more	GUncertain significance
Select item 988731	NM_006662.3(SRCAP):c.7219C>T (p.Gln2407Ter)	SRCAP (Q2407*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 982905	NM_006662.3(SRCAP):c.7993C>G (p.Gln2665Glu)	SRCAP (Q2665E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 982650	NM_006662.3(SRCAP):c.3287C>A (p.Thr1096Asn)	SRCAP (T1096N)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome	GUncertain significance
Select item 981122	NM_006662.3(SRCAP):c.7520C>T (p.Pro2507Leu)	SRCAP (P2507L)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome +2 more	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

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