"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SRCAP"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 197283	NM_006662.3(SRCAP):c.62C>T (p.Ser21Leu)	SRCAP (S21L)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome +3 more	GConflicting classifications of pathogenicity
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 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 318854	NM_006662.3(SRCAP):c.306+4C>T	SRCAP	Single nucleotide variant (intron variant)	Floating-Harbor syndrome +2 more	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 1437058	NM_006662.3(SRCAP):c.492+3A>G	SRCAP	Single nucleotide variant (intron variant)	Floating-Harbor syndrome +2 more	GUncertain significance
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 746848	NM_006662.3(SRCAP):c.633+9T>C	SRCAP	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 728889	NM_006662.3(SRCAP):c.1134+6G>C	SRCAP	Single nucleotide variant (intron variant)	Floating-Harbor syndrome +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 598008	NM_006662.3(SRCAP):c.1220A>T (p.Glu407Val)	SRCAP (E407V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 795146	NM_006662.3(SRCAP):c.1278G>A (p.Glu426=)	SRCAP	Single nucleotide variant (synonymous variant)	Floating-Harbor syndrome +2 more	GBenign/Likely benign
Select item 1334613	NM_006662.3(SRCAP):c.1279G>A (p.Val427Met)	SRCAP (V427M)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome +2 more	GUncertain significance
Select item 916312	NM_006662.3(SRCAP):c.1350G>A (p.Gln450=)	SRCAP	Single nucleotide variant (synonymous variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +2 more	GLikely benign
Select item 710396	NM_006662.3(SRCAP):c.1493-8C>A	SRCAP	Single nucleotide variant (intron variant)	SRCAP-related disorder +3 more	GBenign/Likely benign
Select item 1360518	NM_006662.3(SRCAP):c.1611G>C (p.Gln537His)	SRCAP (Q537H)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +3 more	GConflicting classifications of pathogenicity
Select item 1598271	NM_006662.3(SRCAP):c.1614C>T (p.Ser538=)	SRCAP	Single nucleotide variant (synonymous variant)	Floating-Harbor syndrome +2 more	GLikely benign
Select item 731055	NM_006662.3(SRCAP):c.1878A>G (p.Leu626=)	SRCAP	Single nucleotide variant (synonymous variant)	Floating-Harbor syndrome +2 more	GLikely benign
Select item 1033131	NM_006662.3(SRCAP):c.2125C>T (p.Arg709Trp)	SRCAP (R709W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1490247	NM_006662.3(SRCAP):c.2130+6A>T	SRCAP	Single nucleotide variant (intron variant)	Floating-Harbor syndrome +2 more	GUncertain significance
Select item 1599309	NM_006662.3(SRCAP):c.2328T>C (p.Thr776=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
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 771486	NM_006662.3(SRCAP):c.2559C>T (p.Tyr853=)	SRCAP	Single nucleotide variant (synonymous variant)	Floating-Harbor syndrome +2 more	GLikely benign
Select item 1441746	NM_006662.3(SRCAP):c.2648C>G (p.Ala883Gly)	SRCAP (A883G)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 281494	NM_006662.3(SRCAP):c.2651C>T (p.Thr884Ile)	SRCAP (T884I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1597157	NM_006662.3(SRCAP):c.2655C>A (p.Gly885=)	SRCAP	Single nucleotide variant (synonymous variant)	Floating-Harbor syndrome +2 more	GLikely benign
Select item 1352888	NM_006662.3(SRCAP):c.2883C>T (p.Asp961=)	SRCAP	Single nucleotide variant (synonymous variant)	Floating-Harbor syndrome +2 more	GLikely benign
Select item 1398890	NM_006662.3(SRCAP):c.2897G>A (p.Arg966Gln)	SRCAP (R966Q)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +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 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 1347550	NM_006662.3(SRCAP):c.3050C>T (p.Ala1017Val)	SRCAP (A1017V)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +3 more	GConflicting classifications of pathogenicity
Select item 318872	NM_006662.3(SRCAP):c.3097T>C (p.Ser1033Pro)	SRCAP (S1033P)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome +3 more	GBenign/Likely benign
Select item 260016	NM_006662.3(SRCAP):c.3168C>T (p.Ala1056=)	SRCAP	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 1596690	NM_006662.3(SRCAP):c.3183T>C (p.Ile1061=)	SRCAP	Single nucleotide variant (synonymous variant)	Floating-Harbor syndrome +2 more	GLikely benign
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 599466	NM_006662.3(SRCAP):c.3292C>T (p.Arg1098Trp)	SRCAP (R1098W)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1419664	NM_006662.3(SRCAP):c.3481G>A (p.Ala1161Thr)	SRCAP (A1161T)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome +3 more	GUncertain significance
Select item 727347	NM_006662.3(SRCAP):c.3513A>G (p.Leu1171=)	SRCAP	Single nucleotide variant (synonymous 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)	SRCAP-related disorder +3 more	GLikely benign
Select item 1559204	NM_006662.3(SRCAP):c.3542-5T>C	SRCAP	Single nucleotide variant (intron variant)	SRCAP-related disorder +3 more	GLikely benign
Select item 1399614	NM_006662.3(SRCAP):c.3587G>A (p.Arg1196His)	SRCAP (R1196H)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome +2 more	GUncertain significance
Select item 765057	NM_006662.3(SRCAP):c.3676C>G (p.Leu1226Val)	SRCAP (L1226V)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +2 more	GBenign/Likely benign
Select item 318877	NM_006662.3(SRCAP):c.3699G>A (p.Pro1233=)	SRCAP	Single nucleotide variant (synonymous variant)	Floating-Harbor syndrome +2 more	GBenign/Likely benign
Select item 1602573	NM_006662.3(SRCAP):c.4088C>G (p.Ala1363Gly)	SRCAP (A1363G)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 598465	NM_006662.3(SRCAP):c.4120C>T (p.Leu1374Phe)	SRCAP (L1374F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 318881	NM_006662.3(SRCAP):c.4170C>T (p.Pro1390=)	SRCAP	Single nucleotide variant (synonymous variant)	Floating-Harbor syndrome +2 more	GLikely benign
Select item 1504102	NM_006662.3(SRCAP):c.4243A>C (p.Met1415Leu)	SRCAP (M1415L)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome +2 more	GUncertain significance
Select item 160034	NM_006662.3(SRCAP):c.4293C>G (p.Val1431=)	SRCAP	Single nucleotide variant (synonymous variant)	Floating-Harbor syndrome +3 more	GBenign/Likely benign
Select item 195888	NM_006662.3(SRCAP):c.4355C>T (p.Ser1452Leu)	SRCAP (S1452L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 1356196	NM_006662.3(SRCAP):c.4588A>G (p.Thr1530Ala)	SRCAP (T1530A)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +3 more	GConflicting classifications of pathogenicity
Select item 711163	NM_006662.3(SRCAP):c.4596A>C (p.Ser1532=)	SRCAP	Single nucleotide variant (synonymous variant)	Floating-Harbor syndrome +2 more	GBenign/Likely benign
Select item 724048	NM_006662.3(SRCAP):c.4680G>A (p.Pro1560=)	SRCAP	Single nucleotide variant (synonymous variant)	Floating-Harbor syndrome +2 more	GLikely benign
Select item 1356054	NM_006662.3(SRCAP):c.4723C>T (p.Pro1575Ser)	SRCAP (P1575S)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome +2 more	GUncertain significance
Select item 723187	NM_006662.3(SRCAP):c.4872A>G (p.Ser1624=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 1415385	NM_006662.3(SRCAP):c.5216C>T (p.Pro1739Leu)	SRCAP (P1739L)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +2 more	GUncertain significance
Select item 1540891	NM_006662.3(SRCAP):c.5322G>A (p.Ser1774=)	SRCAP	Single nucleotide variant (synonymous variant)	Floating-Harbor syndrome +2 more	GBenign/Likely benign
Select item 1590996	NM_006662.3(SRCAP):c.5340G>C (p.Leu1780=)	SRCAP	Single nucleotide variant (synonymous variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +2 more	GLikely benign
Select item 318887	NM_006662.3(SRCAP):c.5403C>T (p.Ala1801=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 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 729615	NM_006662.3(SRCAP):c.5478G>C (p.Ser1826=)	SRCAP	Single nucleotide variant (synonymous variant)	Floating-Harbor syndrome +2 more	GLikely benign
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 1661118	NM_006662.3(SRCAP):c.5658+15C>T	SRCAP	Single nucleotide variant (intron variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +2 more	GLikely benign
Select item 1445726	NM_006662.3(SRCAP):c.5707C>T (p.Arg1903Trp)	SRCAP (R1903W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 1501185	NM_006662.3(SRCAP):c.6050G>A (p.Arg2017Gln)	SRCAP (R2017Q)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome +2 more	GUncertain significance
Select item 1352247	NM_006662.3(SRCAP):c.6157C>T (p.Arg2053Trp)	SRCAP (R2053W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 715636	NM_006662.3(SRCAP):c.6501C>T (p.Ile2167=)	SRCAP	Single nucleotide variant (synonymous variant)	Floating-Harbor syndrome +3 more	GLikely benign
Select item 1561223	NM_006662.3(SRCAP):c.6664G>A (p.Val2222Met)	SRCAP (V2222M)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 318893	NM_006662.3(SRCAP):c.7121C>A (p.Thr2374Asn)	SRCAP (T2374N)	Single nucleotide variant (missense variant)	SRCAP-related disorder +3 more	GBenign/Likely benign
Select item 30908	NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter)	SRCAP (R2444*)	Single nucleotide variant (nonsense)	Floating-Harbor syndrome +6 more	GPathogenic
Select item 1369848	NM_006662.3(SRCAP):c.7352C>T (p.Pro2451Leu)	SRCAP (P2451L)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome +2 more	GUncertain significance
Select item 981122	NM_006662.3(SRCAP):c.7520C>T (p.Pro2507Leu)	SRCAP (P2507L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 760221	NM_006662.3(SRCAP):c.7536A>C (p.Thr2512=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 212301	NM_006662.3(SRCAP):c.7722CTC[1] (p.Ser2576del)	SRCAP (S2576del)	Microsatellite (inframe_deletion)	not specified +3 more	GUncertain significance
Select item 1581541	NM_006662.3(SRCAP):c.7777C>T (p.Leu2593=)	SRCAP	Single nucleotide variant (synonymous variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +2 more	GBenign/Likely benign
Select item 1548458	NM_006662.3(SRCAP):c.7850C>T (p.Pro2617Leu)	SRCAP (P2617L)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 1659633	NM_006662.3(SRCAP):c.8373G>A (p.Pro2791=)	SRCAP	Single nucleotide variant (synonymous variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +2 more	GLikely benign
Select item 1529702	NM_006662.3(SRCAP):c.8387T>C (p.Met2796Thr)	SRCAP (M2796T)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +3 more	GLikely benign
Select item 1343616	NM_006662.3(SRCAP):c.8405C>T (p.Ser2802Phe)	SRCAP (S2802F)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +3 more	GUncertain significance
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 1509735	NM_006662.3(SRCAP):c.8414T>C (p.Ile2805Thr)	SRCAP (I2805T)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome +2 more	GUncertain significance
Select item 318903	NM_006662.3(SRCAP):c.8454C>T (p.Pro2818=)	SRCAP	Single nucleotide variant (synonymous variant)	Floating-Harbor syndrome +2 more	GBenign
Select item 722409	NM_006662.3(SRCAP):c.8508T>G (p.Thr2836=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 318906	NM_006662.3(SRCAP):c.8515G>A (p.Gly2839Ser)	SRCAP (G2839S)	Single nucleotide variant (missense variant)	SRCAP-related disorder +3 more	GLikely benign
Select item 1558795	NM_006662.3(SRCAP):c.8535C>T (p.Asp2845=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 318907	NM_006662.3(SRCAP):c.8676T>G (p.Ala2892=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
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 318908	NM_006662.3(SRCAP):c.8703A>G (p.Leu2901=)	SRCAP	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 160039	NM_006662.3(SRCAP):c.8755C>T (p.Leu2919Phe)	SRCAP (L2919F)	Single nucleotide variant (missense variant)	SRCAP-related disorder +5 more	GLikely benign
Select item 788683	NM_006662.3(SRCAP):c.8760A>G (p.Gly2920=)	SRCAP	Single nucleotide variant (synonymous variant)	Floating-Harbor syndrome +3 more	GBenign/Likely benign
Select item 1475566	NM_006662.3(SRCAP):c.8798C>T (p.Pro2933Leu)	SRCAP (P2933L)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome +2 more	GUncertain significance
Select item 318910	NM_006662.3(SRCAP):c.8865C>G (p.Ser2955=)	SRCAP	Single nucleotide variant (synonymous variant)	Floating-Harbor syndrome +3 more	GBenign/Likely benign
Select item 708332	NM_006662.3(SRCAP):c.8893C>T (p.Arg2965Trp)	SRCAP (R2965W)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome +2 more	GBenign/Likely benign
Select item 755132	NM_006662.3(SRCAP):c.8958T>C (p.Thr2986=)	SRCAP	Single nucleotide variant (synonymous variant)	Floating-Harbor syndrome +2 more	GLikely benign
Select item 1592040	NM_006662.3(SRCAP):c.8982C>G (p.Thr2994=)	SRCAP	Single nucleotide variant (synonymous variant)	Floating-Harbor syndrome +2 more	GBenign/Likely benign

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