ClinVar for Gene (Select 10847) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367026	NM_006662.3(SRCAP):c.7616C>T (p.Ser2539Leu)	SRCAP (S2539L)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	GUncertain significance
Select item 3366558	NM_006662.3(SRCAP):c.575G>A (p.Arg192His)	SRCAP (R192H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366262	NM_006662.3(SRCAP):c.6635T>G (p.Met2212Arg)	SRCAP (M2212R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366238	NM_006662.3(SRCAP):c.6190A>G (p.Ile2064Val)	SRCAP (I2064V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366222	NM_006662.3(SRCAP):c.6620G>T (p.Arg2207Leu)	SRCAP (R2207L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366164	NM_006662.3(SRCAP):c.5966C>G (p.Ser1989Cys)	SRCAP (S1989C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365828	NM_006662.3(SRCAP):c.88G>A (p.Val30Met)	SRCAP (V30M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365404	NM_006662.3(SRCAP):c.7580T>C (p.Leu2527Pro)	SRCAP (L2527P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365391	NM_006662.3(SRCAP):c.487C>T (p.Arg163Trp)	SRCAP (R163W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365165	NM_006662.3(SRCAP):c.6112A>G (p.Ile2038Val)	SRCAP (I2038V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365019	NM_006662.3(SRCAP):c.1924G>T (p.Ala642Ser)	SRCAP (A642S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364816	NM_006662.3(SRCAP):c.1981G>C (p.Ala661Pro)	SRCAP (A661P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364209	NM_006662.3(SRCAP):c.1009C>A (p.Arg337Ser)	SRCAP (R337S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363843	NM_006662.3(SRCAP):c.2947C>T (p.Pro983Ser)	SRCAP (P983S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363510	NM_006662.3(SRCAP):c.7667A>G (p.Gln2556Arg)	SRCAP (Q2556R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363424	NM_006662.3(SRCAP):c.5623C>A (p.Gln1875Lys)	SRCAP (Q1875K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363407	NM_006662.3(SRCAP):c.7229dup (p.Asn2410fs)	SRCAP (N2410fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3361738	NM_006662.3(SRCAP):c.3655A>T (p.Thr1219Ser)	SRCAP (T1219S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361638	NM_006662.3(SRCAP):c.2415G>T (p.Glu805Asp)	SRCAP (E805D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361625	NM_006662.3(SRCAP):c.6533A>G (p.Lys2178Arg)	SRCAP (K2178R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360229	NM_006662.3(SRCAP):c.910G>A (p.Glu304Lys)	SRCAP (E304K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360113	NM_006662.3(SRCAP):c.3542-1G>C	SRCAP	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3359789	NM_006662.3(SRCAP):c.4316T>C (p.Leu1439Pro)	SRCAP (L1439P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3358948	NM_006662.3(SRCAP):c.2298_2300+3del	SRCAP	Deletion (splice donor variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	GPathogenic
Select item 3358247	NM_006662.3(SRCAP):c.6495-5C>A	SRCAP	Single nucleotide variant (intron variant)	SRCAP-related disorder	GLikely benign
Select item 3356241	NM_006662.3(SRCAP):c.7486_7503del (p.Ser2496_Pro2501del)	SRCAP	Deletion (inframe_deletion)	SRCAP-related disorder	GUncertain significance
Select item 3355359	NM_006662.3(SRCAP):c.7781C>G (p.Pro2594Arg)	SRCAP (P2594R)	Single nucleotide variant (missense variant)	SRCAP-related disorder	GUncertain significance
Select item 3350121	NM_006662.3(SRCAP):c.3440C>T (p.Thr1147Ile)	SRCAP (T1147I)	Single nucleotide variant (missense variant)	SRCAP-related disorder	GUncertain significance
Select item 3348211	NM_006662.3(SRCAP):c.2881G>A (p.Asp961Asn)	SRCAP (D961N)	Single nucleotide variant (missense variant)	SRCAP-related disorder	GUncertain significance
Select item 3343650	NM_006662.3(SRCAP):c.7217C>T (p.Thr2406Ile)	SRCAP (T2406I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343625	NM_006662.3(SRCAP):c.739C>G (p.Leu247Val)	SRCAP (L247V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343542	NM_006662.3(SRCAP):c.5575A>G (p.Ser1859Gly)	SRCAP (S1859G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342163	NM_006662.3(SRCAP):c.1662G>A (p.Leu554=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3341818	NM_006662.3(SRCAP):c.4642G>C (p.Val1548Leu)	SRCAP (V1548L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340716	NM_006662.3(SRCAP):c.7245_7246del (p.Ser2416fs)	SRCAP (S2416fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3339112	NM_006662.3(SRCAP):c.819C>T (p.Ser273=)	SRCAP	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3338584	NM_006662.3(SRCAP):c.2384A>G (p.His795Arg)	SRCAP (H795R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338504	NM_006662.3(SRCAP):c.729C>G (p.Tyr243Ter)	SRCAP (Y243*)	Single nucleotide variant (nonsense)	SRCAP-related disorder	GLikely pathogenic
Select item 3338499	NM_006662.3(SRCAP):c.9692G>C (p.Ter3231Ser)	SRCAP	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 3337632	NM_006662.3(SRCAP):c.2096A>G (p.Tyr699Cys)	SRCAP (Y699C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336598	NM_006662.3(SRCAP):c.55-17A>G	SRCAP	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3322584	NM_006662.3(SRCAP):c.8573G>A (p.Arg2858His)	SRCAP (R2858H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322583	NM_006662.3(SRCAP):c.1624G>A (p.Glu542Lys)	SRCAP (E542K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322582	NM_006662.3(SRCAP):c.1564G>T (p.Ala522Ser)	SRCAP (A522S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322581	NM_006662.3(SRCAP):c.4498C>G (p.Pro1500Ala)	SRCAP (P1500A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322580	NM_006662.3(SRCAP):c.8827C>G (p.Pro2943Ala)	SRCAP (P2943A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322579	NM_006662.3(SRCAP):c.4253C>T (p.Pro1418Leu)	SRCAP (P1418L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322578	NM_006662.3(SRCAP):c.7508C>T (p.Pro2503Leu)	SRCAP (P2503L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322577	NM_006662.3(SRCAP):c.5495C>T (p.Pro1832Leu)	SRCAP (P1832L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322576	NM_006662.3(SRCAP):c.8912A>C (p.His2971Pro)	SRCAP (H2971P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322575	NM_006662.3(SRCAP):c.7966C>T (p.Pro2656Ser)	SRCAP (P2656S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322574	NM_006662.3(SRCAP):c.848_856+17del	SRCAP	Deletion (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3322573	NM_006662.3(SRCAP):c.5179A>G (p.Thr1727Ala)	SRCAP (T1727A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3322572	NM_006662.3(SRCAP):c.3020G>A (p.Arg1007Gln)	SRCAP (R1007Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322571	NM_006662.3(SRCAP):c.4618A>C (p.Thr1540Pro)	SRCAP (T1540P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257336	NM_006662.3(SRCAP):c.8021C>T (p.Ser2674Leu)	SRCAP (S2674L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3257119	NM_006662.3(SRCAP):c.1601C>T (p.Ala534Val)	SRCAP (A534V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3257073	NM_006662.3(SRCAP):c.3395C>T (p.Thr1132Ile)	SRCAP (T1132I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3254691	NM_006662.3(SRCAP):c.5164T>C (p.Ser1722Pro)	SRCAP (S1722P)	Single nucleotide variant (missense variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	GUncertain significance
Select item 3253178	NM_006662.3(SRCAP):c.131G>A (p.Gly44Asp)	SRCAP (G44D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252415	NM_006662.3(SRCAP):c.8126C>A (p.Ser2709Tyr)	SRCAP (S2709Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251538	NM_006662.3(SRCAP):c.2913C>T (p.Arg971=)	SRCAP	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3243573	NC_000016.9:g.(?_28889993)_(31202759_?)del	ALDOA, ASPHD1 +76 more	Deletion	Dilated Cardiomyopathy, Dominant	GUncertain significance
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 3235800	NM_006662.3(SRCAP):c.7712G>T (p.Ser2571Ile)	SRCAP (S2571I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235736	NM_006662.3(SRCAP):c.2201C>A (p.Ala734Asp)	SRCAP (A734D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235172	NM_006662.3(SRCAP):c.1187_1228+67del	SRCAP	Deletion (splice donor variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	GLikely pathogenic
Select item 3234389	NM_006662.3(SRCAP):c.2769C>T (p.Phe923=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234368	NM_006662.3(SRCAP):c.9219A>C (p.Ala3073=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3233908	NM_006662.3(SRCAP):c.9581G>A (p.Arg3194His)	SRCAP (R3194H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169859	NM_006662.3(SRCAP):c.9484C>G (p.Pro3162Ala)	SRCAP (P3162A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169858	NM_006662.3(SRCAP):c.9161C>A (p.Ser3054Tyr)	SRCAP (S3054Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169857	NM_006662.3(SRCAP):c.8977G>A (p.Val2993Ile)	SRCAP (V2993I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3169856	NM_006662.3(SRCAP):c.8684T>G (p.Val2895Gly)	SRCAP (V2895G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169855	NM_006662.3(SRCAP):c.8485C>T (p.Arg2829Cys)	SRCAP (R2829C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169854	NM_006662.3(SRCAP):c.8477T>C (p.Ile2826Thr)	SRCAP (I2826T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169853	NM_006662.3(SRCAP):c.842G>A (p.Arg281His)	SRCAP (R281H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169851	NM_006662.3(SRCAP):c.8296C>T (p.Arg2766Trp)	SRCAP (R2766W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169850	NM_006662.3(SRCAP):c.8167C>T (p.Arg2723Cys)	SRCAP (R2723C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169849	NM_006662.3(SRCAP):c.797T>C (p.Leu266Pro)	SRCAP (L266P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169848	NM_006662.3(SRCAP):c.7688C>T (p.Ser2563Phe)	SRCAP (S2563F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169847	NM_006662.3(SRCAP):c.7676C>T (p.Ala2559Val)	SRCAP (A2559V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169846	NM_006662.3(SRCAP):c.7538C>T (p.Pro2513Leu)	SRCAP (P2513L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169845	NM_006662.3(SRCAP):c.7275_7279del (p.Pro2427fs)	SRCAP (P2427fs)	Microsatellite (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3169844	NM_006662.3(SRCAP):c.6827G>T (p.Gly2276Val)	SRCAP (G2276V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3169841	NM_006662.3(SRCAP):c.4904C>T (p.Ser1635Leu)	SRCAP (S1635L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3169840	NM_006662.3(SRCAP):c.3701T>C (p.Leu1234Pro)	SRCAP (L1234P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169839	NM_006662.3(SRCAP):c.3562G>A (p.Gly1188Arg)	SRCAP (G1188R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169838	NM_006662.3(SRCAP):c.3344G>T (p.Arg1115Leu)	SRCAP (R1115L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169837	NM_006662.3(SRCAP):c.3233A>G (p.Asn1078Ser)	SRCAP (N1078S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169835	NM_006662.3(SRCAP):c.1358dup (p.Ala454fs)	SRCAP (A454fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3067571	NM_006662.3(SRCAP):c.2580G>C (p.Arg860Ser)	SRCAP (R860S)	Single nucleotide variant (missense variant)	not provided	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 3061092	NM_006662.3(SRCAP):c.4729TCT[3] (p.Ser1578_Ala1579insSer)	SRCAP	Microsatellite	SRCAP-related disorder	GUncertain significance
Select item 3061034	NM_006662.3(SRCAP):c.1303G>C (p.Glu435Gln)	SRCAP (E435Q)	Single nucleotide variant (missense variant)	SRCAP-related disorder	GUncertain significance
Select item 3057443	NM_006662.3(SRCAP):c.6438T>C (p.Ala2146=)	SRCAP	Single nucleotide variant (synonymous variant)	SRCAP-related disorder	GLikely benign

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