"GeneDx"[submitter] AND "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 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 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 2504377	NM_006662.3(SRCAP):c.65A>G (p.Asp22Gly)	SRCAP (D22G)	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 3253178	NM_006662.3(SRCAP):c.131G>A (p.Gly44Asp)	SRCAP (G44D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 160033	NM_006662.3(SRCAP):c.189C>G (p.Pro63=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 3376060	NM_006662.3(SRCAP):c.242A>G (p.Asp81Gly)	SRCAP (D81G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1256907	NM_006662.3(SRCAP):c.306+272T>C	SRCAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3368353	NM_006662.3(SRCAP):c.347A>C (p.Glu116Ala)	SRCAP (E116A)	Single nucleotide variant (missense variant)	not provided	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 3373301	NM_006662.3(SRCAP):c.451T>G (p.Phe151Val)	SRCAP (F151V)	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 260018	NM_006662.3(SRCAP):c.493-20C>T	SRCAP	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1801106	NM_006662.3(SRCAP):c.640C>G (p.Gln214Glu)	SRCAP (Q214E)	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 1309585	NM_006662.3(SRCAP):c.759G>T (p.Gln253His)	SRCAP (Q253H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723495	NM_006662.3(SRCAP):c.774C>G (p.Ser258Arg)	SRCAP (S258R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 280616	NM_006662.3(SRCAP):c.833del (p.Pro278fs)	SRCAP (P278fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3372529	NM_006662.3(SRCAP):c.844C>G (p.Leu282Val)	SRCAP (L282V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121484	NM_006662.3(SRCAP):c.952A>G (p.Arg318Gly)	SRCAP (R318G)	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 1308432	NM_006662.3(SRCAP):c.1066T>G (p.Ser356Ala)	SRCAP (S356A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 488873	NM_006662.3(SRCAP):c.1174C>T (p.Gln392Ter)	SRCAP (Q392*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3375818	NM_006662.3(SRCAP):c.1240G>A (p.Glu414Lys)	SRCAP (E414K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375668	NM_006662.3(SRCAP):c.1338G>C (p.Glu446Asp)	SRCAP (E446D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706859	NM_006662.3(SRCAP):c.1492+31G>A	SRCAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 507874	NM_006662.2(SRCAP):c.1493-18_1493-14delCTTGGins23	SRCAP	Indel	not specified	GLikely benign
Select item 2662493	NM_006662.3(SRCAP):c.1522G>A (p.Glu508Lys)	SRCAP (E508K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428949	NM_006662.3(SRCAP):c.1583C>T (p.Ser528Phe)	SRCAP (S528F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693424	NM_006662.3(SRCAP):c.1643A>G (p.Asp548Gly)	SRCAP (D548G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2015515	NM_006662.3(SRCAP):c.1699G>A (p.Gly567Ser)	SRCAP (G567S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1697011	NM_006662.3(SRCAP):c.1741A>C (p.Lys581Gln)	SRCAP (K581Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698034	NM_006662.3(SRCAP):c.1752T>G (p.Ile584Met)	SRCAP (I584M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722813	NM_006662.3(SRCAP):c.1799C>T (p.Thr600Met)	SRCAP (T600M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311970	NM_006662.3(SRCAP):c.1856G>A (p.Arg619Gln)	SRCAP (R619Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372763	NM_006662.3(SRCAP):c.1921C>T (p.Leu641Phe)	SRCAP (L641F)	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 2574746	NM_006662.3(SRCAP):c.1935G>A (p.Met645Ile)	SRCAP (M645I)	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 3369391	NM_006662.3(SRCAP):c.2101G>T (p.Ala701Ser)	SRCAP (A701S)	Single nucleotide variant (missense variant)	not provided	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 1244362	NM_006662.3(SRCAP):c.2130+85C>T	SRCAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2499386	NM_006662.3(SRCAP):c.2213A>G (p.Lys738Arg)	SRCAP (K738R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 423447	NM_006662.3(SRCAP):c.2309G>A (p.Arg770His)	SRCAP (R770H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313892	NM_006662.3(SRCAP):c.2482C>T (p.Arg828Cys)	SRCAP (R828C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1243195	NM_006662.3(SRCAP):c.2493+120G>A	SRCAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260982	NM_006662.3(SRCAP):c.2493+204dup	SRCAP	Duplication (intron variant)	not provided	GBenign
Select item 2500482	NM_006662.3(SRCAP):c.2743C>A (p.Pro915Thr)	SRCAP (P915T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1258974	NM_006662.3(SRCAP):c.2760C>T (p.Gly920=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 287610	NM_006662.3(SRCAP):c.2801A>T (p.Asp934Val)	SRCAP (D934V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700513	NM_006662.3(SRCAP):c.2817+5G>A	SRCAP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1280391	NM_006662.3(SRCAP):c.2818-211G>C	SRCAP	Single nucleotide variant (intron variant)	not provided	GBenign
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 1238509	NM_006662.3(SRCAP):c.3254-104C>G	SRCAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706851	NM_006662.3(SRCAP):c.3542-34G>T	SRCAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 765057	NM_006662.3(SRCAP):c.3676C>G (p.Leu1226Val)	SRCAP (L1226V)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1305020	NM_006662.3(SRCAP):c.3707-1G>C	SRCAP	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1803413	NM_006662.3(SRCAP):c.3817T>C (p.Ser1273Pro)	SRCAP (S1273P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995435	NM_006662.3(SRCAP):c.3833C>A (p.Ser1278Ter)	SRCAP (S1278*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2571921	NM_006662.3(SRCAP):c.3856C>T (p.Pro1286Ser)	SRCAP (P1286S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378143	NM_006662.3(SRCAP):c.3925G>A (p.Val1309Met)	SRCAP (V1309M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311202	NM_006662.3(SRCAP):c.4031C>A (p.Pro1344Gln)	SRCAP (P1344Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504999	NM_006662.3(SRCAP):c.4123C>T (p.Leu1375Phe)	SRCAP (L1375F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578169	NM_006662.3(SRCAP):c.4142C>T (p.Pro1381Leu)	SRCAP (P1381L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430989	NM_006662.3(SRCAP):c.4244T>A (p.Met1415Lys)	SRCAP (M1415K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 160034	NM_006662.3(SRCAP):c.4293C>G (p.Val1431=)	SRCAP	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1303759	NM_006662.3(SRCAP):c.4350dup (p.Ala1451fs)	SRCAP (A1451fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1722807	NM_006662.3(SRCAP):c.4396T>G (p.Ser1466Ala)	SRCAP (S1466A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699669	NM_006662.3(SRCAP):c.4603C>T (p.Pro1535Ser)	SRCAP (P1535S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704736	NM_006662.3(SRCAP):c.4700C>T (p.Pro1567Leu)	SRCAP (P1567L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1350608	NM_006662.3(SRCAP):c.4885G>A (p.Val1629Ile)	SRCAP (V1629I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378228	NM_006662.3(SRCAP):c.4903T>A (p.Ser1635Thr)	SRCAP (S1635T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376084	NM_006662.3(SRCAP):c.4996G>A (p.Ala1666Thr)	SRCAP (A1666T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878958	NM_006662.3(SRCAP):c.5182C>G (p.Pro1728Ala)	SRCAP (P1728A)	Single nucleotide variant (missense variant)	SRCAP-related disorder +1 more	GUncertain significance
Select item 503868	NM_006662.3(SRCAP):c.5461delinsAGA (p.Ser1821fs)	SRCAP (S1821fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 3370536	NM_006662.3(SRCAP):c.5480C>T (p.Ala1827Val)	SRCAP (A1827V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804195	NM_006662.3(SRCAP):c.5561G>T (p.Arg1854Leu)	SRCAP (R1854L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698074	NM_006662.3(SRCAP):c.5561_5562delinsCT (p.Arg1854Pro)	SRCAP (R1854P)	Indel (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 3368301	NM_006662.3(SRCAP):c.5582C>T (p.Pro1861Leu)	SRCAP (P1861L)	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 995431	NM_006662.3(SRCAP):c.5633dup (p.Pro1879fs)	SRCAP (P1879fs)	Duplication (frameshift variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +1 more	GPathogenic/Likely pathogenic
Select item 1277755	NM_006662.3(SRCAP):c.5659-145T>C	SRCAP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2662751	NM_006662.3(SRCAP):c.5690G>T (p.Arg1897Leu)	SRCAP (R1897L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311128	NM_006662.3(SRCAP):c.5704G>C (p.Glu1902Gln)	SRCAP (E1902Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704001	NM_006662.3(SRCAP):c.5785C>T (p.Pro1929Ser)	SRCAP (P1929S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576670	NM_006662.3(SRCAP):c.5854A>G (p.Thr1952Ala)	SRCAP (T1952A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501877	NM_006662.3(SRCAP):c.5951A>G (p.Glu1984Gly)	SRCAP (E1984G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580506	NM_006662.3(SRCAP):c.5953G>A (p.Ala1985Thr)	SRCAP (A1985T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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