"Eurofins Ntd Llc (ga)"[submitter] AND "SRCAP"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 55

	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 160032	NM_006662.3(SRCAP):c.132C>T (p.Gly44=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 286786	NM_006662.3(SRCAP):c.791C>T (p.Pro264Leu)	SRCAP (P264L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 290688	NM_006662.3(SRCAP):c.1020C>G (p.Pro340=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 598008	NM_006662.3(SRCAP):c.1220A>T (p.Glu407Val)	SRCAP (E407V)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome +2 more	GUncertain significance
Select item 289512	NM_006662.3(SRCAP):c.1545A>G (p.Glu515=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 218688	NM_006662.3(SRCAP):c.1559G>A (p.Ser520Asn)	SRCAP (S520N)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 499747	NM_006662.3(SRCAP):c.2573G>A (p.Arg858His)	SRCAP (R858H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 282976	NM_006662.3(SRCAP):c.2589G>A (p.Lys863=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 281494	NM_006662.3(SRCAP):c.2651C>T (p.Thr884Ile)	SRCAP (T884I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
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 596866	NM_006662.3(SRCAP):c.2892G>A (p.Leu964=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 287085	NM_006662.3(SRCAP):c.3047G>A (p.Arg1016Gln)	SRCAP (R1016Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 318872	NM_006662.3(SRCAP):c.3097T>C (p.Ser1033Pro)	SRCAP (S1033P)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 498862	NM_006662.3(SRCAP):c.3172C>T (p.Pro1058Ser)	SRCAP (P1058S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 260017	NM_006662.3(SRCAP):c.3302C>A (p.Thr1101Lys)	SRCAP (T1101K)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 195606	NM_006662.3(SRCAP):c.3388C>T (p.Pro1130Ser)	SRCAP (P1130S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 281497	NM_006662.3(SRCAP):c.3484C>T (p.Pro1162Ser)	SRCAP (P1162S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 285553	NM_006662.3(SRCAP):c.3738G>T (p.Gly1246=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 593727	NM_006662.3(SRCAP):c.3775C>T (p.Leu1259Phe)	SRCAP (L1259F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 218689	NM_006662.3(SRCAP):c.3868A>G (p.Ser1290Gly)	SRCAP (S1290G)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 497426	NM_006662.3(SRCAP):c.4105A>G (p.Thr1369Ala)	SRCAP (T1369A)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 598465	NM_006662.3(SRCAP):c.4120C>T (p.Leu1374Phe)	SRCAP (L1374F)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome +2 more	GConflicting classifications of pathogenicity
Select item 283553	NM_006662.3(SRCAP):c.4189A>G (p.Ile1397Val)	SRCAP (I1397V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 195889	NM_006662.3(SRCAP):c.4218C>A (p.Ser1406=)	SRCAP	Single nucleotide variant (synonymous variant)	Floating-Harbor syndrome +3 more	GBenign
Select item 195888	NM_006662.3(SRCAP):c.4355C>T (p.Ser1452Leu)	SRCAP (S1452L)	Single nucleotide variant (missense variant)	Floating-Harbor syndrome +3 more	GConflicting classifications of pathogenicity
Select item 287141	NM_006662.3(SRCAP):c.4563T>A (p.Pro1521=)	SRCAP	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 160035	NM_006662.3(SRCAP):c.4603C>G (p.Pro1535Ala)	SRCAP (P1535A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 318883	NM_006662.3(SRCAP):c.4940C>T (p.Pro1647Leu)	SRCAP (P1647L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 281516	NM_006662.3(SRCAP):c.5019G>A (p.Pro1673=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 286326	NM_006662.3(SRCAP):c.5420C>T (p.Ala1807Val)	SRCAP (A1807V)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 284335	NM_006662.3(SRCAP):c.5469T>C (p.Leu1823=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 195886	NM_006662.3(SRCAP):c.5531C>G (p.Ser1844Cys)	SRCAP (S1844C)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 502175	NM_006662.3(SRCAP):c.5610C>T (p.Pro1870=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 195887	NM_006662.3(SRCAP):c.5631C>G (p.Pro1877=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 260020	NM_006662.3(SRCAP):c.5705A>G (p.Glu1902Gly)	SRCAP (E1902G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 594110	NM_006662.3(SRCAP):c.5838C>A (p.Pro1946=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 597295	NM_006662.3(SRCAP):c.6009G>C (p.Gln2003His)	SRCAP (Q2003H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 289216	NM_006662.3(SRCAP):c.6576G>A (p.Glu2192=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 196910	NM_006662.3(SRCAP):c.7173G>A (p.Pro2391=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 196912	NM_006662.3(SRCAP):c.7248C>T (p.Ser2416=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 30909	NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter)	SRCAP (R2435*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 30908	NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter)	SRCAP (R2444*)	Single nucleotide variant (nonsense)	Neurodevelopmental delay +5 more	GPathogenic
Select item 596363	NM_006662.3(SRCAP):c.7571C>G (p.Ser2524Cys)	SRCAP (S2524C)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 288884	NM_006662.3(SRCAP):c.7723T>A (p.Ser2575Thr)	SRCAP (S2575T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 196908	NM_006662.3(SRCAP):c.7853A>G (p.Asn2618Ser)	SRCAP (N2618S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 284713	NM_006662.3(SRCAP):c.8035G>A (p.Glu2679Lys)	SRCAP (E2679K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 318901	NM_006662.3(SRCAP):c.8379C>T (p.Val2793=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 196911	NM_006662.3(SRCAP):c.8380C>T (p.Arg2794Cys)	SRCAP (R2794C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 289502	NM_006662.3(SRCAP):c.8531G>C (p.Gly2844Ala)	SRCAP (G2844A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 593460	NM_006662.3(SRCAP):c.8679C>T (p.Asp2893=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	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 318910	NM_006662.3(SRCAP):c.8865C>G (p.Ser2955=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 196909	NM_006662.3(SRCAP):c.9444T>C (p.Ser3148=)	SRCAP	Single nucleotide variant (synonymous variant)	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities +3 more	GBenign/Likely benign
Select item 500997	NM_006662.3(SRCAP):c.9633C>T (p.Ser3211=)	SRCAP	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 55