ClinVar for Gene (Select 57448) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3134105	NM_016252.4(BIRC6):c.9856C>T (p.Arg3286Trp)	BIRC6 (R3285W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134104	NM_016252.4(BIRC6):c.9154A>G (p.Met3052Val)	BIRC6 (M3052V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134103	NM_016252.4(BIRC6):c.9130A>G (p.Ser3044Gly)	BIRC6 (S3044G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134102	NM_016252.4(BIRC6):c.9071A>C (p.His3024Pro)	BIRC6 (H3023P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134101	NM_016252.4(BIRC6):c.8950G>C (p.Val2984Leu)	BIRC6 (V2984L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134100	NM_016252.4(BIRC6):c.8539A>G (p.Asn2847Asp)	BIRC6 (N2847D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134099	NM_016252.4(BIRC6):c.8482A>G (p.Thr2828Ala)	BIRC6 (T2827A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134098	NM_016252.4(BIRC6):c.8138A>G (p.Asn2713Ser)	BIRC6 (N2712S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134097	NM_016252.4(BIRC6):c.80G>A (p.Arg27Gln)	BIRC6, LOC129933458 (R27Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3134096	NM_016252.4(BIRC6):c.8003G>A (p.Ser2668Asn)	BIRC6 (S2668N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134095	NM_016252.4(BIRC6):c.7828A>G (p.Thr2610Ala)	BIRC6 (T2609A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134094	NM_016252.4(BIRC6):c.7652C>T (p.Thr2551Met)	BIRC6 (T2551M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134093	NM_016252.4(BIRC6):c.7646C>A (p.Ala2549Glu)	BIRC6 (A2548E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134091	NM_016252.4(BIRC6):c.7365G>T (p.Gln2455His)	BIRC6 (Q2454H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134090	NM_016252.4(BIRC6):c.7105A>G (p.Ile2369Val)	BIRC6 (I2368V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134089	NM_016252.4(BIRC6):c.6940C>A (p.Pro2314Thr)	BIRC6 (P2313T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134087	NM_016252.4(BIRC6):c.6627C>G (p.His2209Gln)	BIRC6 (H2209Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134086	NM_016252.4(BIRC6):c.6574G>T (p.Ala2192Ser)	BIRC6 (A2182S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134085	NM_016252.4(BIRC6):c.6511G>A (p.Val2171Ile)	BIRC6 (V2161I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134083	NM_016252.4(BIRC6):c.6073A>G (p.Thr2025Ala)	BIRC6 (T2025A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134082	NM_016252.4(BIRC6):c.5890G>A (p.Val1964Ile)	BIRC6 (V1954I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134081	NM_016252.4(BIRC6):c.5863T>A (p.Tyr1955Asn)	BIRC6 (Y1945N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134080	NM_016252.4(BIRC6):c.5846G>A (p.Ser1949Asn)	BIRC6 (S1949N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134079	NM_016252.4(BIRC6):c.5434T>G (p.Leu1812Val)	BIRC6 (L1802V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134078	NM_016252.4(BIRC6):c.5260C>G (p.Pro1754Ala)	BIRC6 (P1754A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134077	NM_016252.4(BIRC6):c.5198T>C (p.Ile1733Thr)	BIRC6 (I1733T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134076	NM_016252.4(BIRC6):c.5177A>G (p.Gln1726Arg)	BIRC6 (Q1716R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134075	NM_016252.4(BIRC6):c.4682T>C (p.Leu1561Ser)	BIRC6 (L1547S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134073	NM_016252.4(BIRC6):c.3692G>A (p.Gly1231Glu)	BIRC6 (G1231E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134072	NM_016252.4(BIRC6):c.3556G>A (p.Val1186Ile)	BIRC6 (V1172I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134071	NM_016252.4(BIRC6):c.3507A>T (p.Arg1169Ser)	BIRC6 (R1155S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134070	NM_016252.4(BIRC6):c.3506G>T (p.Arg1169Ile)	BIRC6 (R1155I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134069	NM_016252.4(BIRC6):c.3461A>G (p.Asn1154Ser)	BIRC6 (N1154S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134068	NM_016252.4(BIRC6):c.3088C>T (p.Arg1030Cys)	BIRC6 (R1030C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134067	NM_016252.4(BIRC6):c.2977G>C (p.Glu993Gln)	BIRC6 (E993Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134066	NM_016252.4(BIRC6):c.2233T>G (p.Leu745Val)	BIRC6 (L745V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134065	NM_016252.4(BIRC6):c.2225G>A (p.Gly742Glu)	BIRC6 (G714E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134064	NM_016252.4(BIRC6):c.1982G>C (p.Gly661Ala)	BIRC6 (G633A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134063	NM_016252.4(BIRC6):c.1963A>C (p.Lys655Gln)	BIRC6 (K627Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134062	NM_016252.4(BIRC6):c.1881A>C (p.Leu627Phe)	BIRC6 (L599F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134061	NM_016252.4(BIRC6):c.182G>A (p.Gly61Asp)	BIRC6, LOC129933458 (G33D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134060	NM_016252.4(BIRC6):c.1621A>C (p.Asn541His)	BIRC6 (N513H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134059	NM_016252.4(BIRC6):c.160G>C (p.Glu54Gln)	BIRC6, LOC129933458 (E54Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134058	NM_016252.4(BIRC6):c.14519A>G (p.His4840Arg)	BIRC6 (H4840R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134056	NM_016252.4(BIRC6):c.14447G>A (p.Gly4816Asp)	BIRC6 (G4815D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134055	NM_016252.4(BIRC6):c.14413C>T (p.Arg4805Cys)	BIRC6 (R4804C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134054	NM_016252.4(BIRC6):c.14266C>T (p.His4756Tyr)	BIRC6 (H4755Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134053	NM_016252.4(BIRC6):c.14051A>G (p.Gln4684Arg)	BIRC6 (Q4684R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134052	NM_016252.4(BIRC6):c.13729C>T (p.Arg4577Cys)	BIRC6 (R4577C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134051	NM_016252.4(BIRC6):c.13637A>G (p.Asp4546Gly)	BIRC6 (D4545G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134050	NM_016252.4(BIRC6):c.13502A>G (p.Glu4501Gly)	BIRC6 (E4501G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134049	NM_016252.4(BIRC6):c.13391C>A (p.Pro4464Gln)	BIRC6 (P4464Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134048	NM_016252.4(BIRC6):c.13028A>G (p.Gln4343Arg)	BIRC6 (Q4343R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134047	NM_016252.4(BIRC6):c.12613T>G (p.Ser4205Ala)	BIRC6 (S4204A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134046	NM_016252.4(BIRC6):c.1247A>G (p.Lys416Arg)	BIRC6 (K388R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134045	NM_016252.4(BIRC6):c.12307G>C (p.Val4103Leu)	BIRC6 (V4103L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134044	NM_016252.4(BIRC6):c.12272A>G (p.Tyr4091Cys)	BIRC6 (Y4090C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134043	NM_016252.4(BIRC6):c.12160G>T (p.Asp4054Tyr)	BIRC6 (D4053Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134042	NM_016252.4(BIRC6):c.12079C>G (p.Leu4027Val)	BIRC6 (L4026V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134041	NM_016252.4(BIRC6):c.11972A>G (p.Tyr3991Cys)	BIRC6 (Y3990C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134040	NM_016252.4(BIRC6):c.1178C>T (p.Ser393Leu)	BIRC6 (S365L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134039	NM_016252.4(BIRC6):c.11332C>A (p.Gln3778Lys)	BIRC6 (Q3778K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134038	NM_016252.4(BIRC6):c.11197G>A (p.Ala3733Thr)	BIRC6 (A3732T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134037	NM_016252.4(BIRC6):c.11092A>G (p.Ile3698Val)	BIRC6 (I3698V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134036	NM_016252.4(BIRC6):c.11050G>A (p.Ala3684Thr)	BIRC6 (A3684T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134034	NM_016252.4(BIRC6):c.10441A>G (p.Thr3481Ala)	BIRC6 (T3481A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3134033	NM_016252.4(BIRC6):c.10311G>T (p.Gln3437His)	BIRC6 (Q3436H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067432	NM_016252.4(BIRC6):c.7944C>A (p.Ser2648=)	BIRC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3062647	GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1	ARHGEF33, ATL2 +52 more	Copy number loss	not specified	GPathogenic
Select item 3062607	GRCh37/hg19 2p22.3(chr2:32437298-34106470)x1	BIRC6, FAM98A +6 more	Copy number loss	not specified	GUncertain significance
Select item 3062596	GRCh37/hg19 2p22.3(chr2:32703576-32971021)x1	BIRC6, TTC27	Copy number loss	not specified	GUncertain significance
Select item 3061431	NM_016252.4(BIRC6):c.13918C>T (p.Pro4640Ser)	BIRC6 (P4639S +1 more)	Single nucleotide variant (missense variant)	BIRC6-related disorder	GUncertain significance
Select item 3059999	NM_016252.4(BIRC6):c.5313A>G (p.Gln1771=)	BIRC6	Single nucleotide variant (synonymous variant)	BIRC6-related disorder	GBenign
Select item 3059700	NM_016252.4(BIRC6):c.10650T>C (p.Cys3550=)	BIRC6	Single nucleotide variant (synonymous variant)	BIRC6-related disorder	GBenign
Select item 3059224	NM_016252.4(BIRC6):c.3825T>C (p.Asn1275=)	BIRC6	Single nucleotide variant (synonymous variant)	BIRC6-related disorder	GBenign
Select item 3058823	NM_016252.4(BIRC6):c.8550C>T (p.Val2850=)	BIRC6	Single nucleotide variant (synonymous variant)	BIRC6-related disorder	GLikely benign
Select item 3057184	NM_016252.4(BIRC6):c.2037A>G (p.Leu679=)	BIRC6	Single nucleotide variant (synonymous variant)	BIRC6-related disorder	GBenign
Select item 3056880	NM_016252.4(BIRC6):c.4144C>A (p.Arg1382=)	BIRC6	Single nucleotide variant (synonymous variant)	BIRC6-related disorder	GBenign
Select item 3055305	NM_016252.4(BIRC6):c.14232C>T (p.Ile4744=)	BIRC6	Single nucleotide variant (synonymous variant)	BIRC6-related disorder	GBenign
Select item 3053755	NM_016252.4(BIRC6):c.12094+4T>A	BIRC6	Single nucleotide variant (intron variant)	BIRC6-related disorder	GLikely benign
Select item 3052652	NM_016252.4(BIRC6):c.8877A>G (p.Lys2959=)	BIRC6	Single nucleotide variant (synonymous variant)	BIRC6-related disorder	GLikely benign
Select item 3052611	NM_016252.4(BIRC6):c.9702C>T (p.Thr3234=)	BIRC6	Single nucleotide variant (synonymous variant)	BIRC6-related disorder	GLikely benign
Select item 3052379	NM_016252.4(BIRC6):c.12864T>C (p.Tyr4288=)	BIRC6	Single nucleotide variant (synonymous variant)	BIRC6-related disorder	GLikely benign
Select item 3051742	NM_016252.4(BIRC6):c.3075A>G (p.Leu1025=)	BIRC6	Single nucleotide variant (synonymous variant)	BIRC6-related disorder	GLikely benign
Select item 3050769	NM_016252.4(BIRC6):c.682T>C (p.Leu228=)	BIRC6	Single nucleotide variant (synonymous variant)	BIRC6-related disorder	GLikely benign
Select item 3048271	NM_016252.4(BIRC6):c.1884G>A (p.Pro628=)	BIRC6	Single nucleotide variant (synonymous variant)	BIRC6-related disorder	GLikely benign
Select item 3045658	NM_016252.4(BIRC6):c.6252A>G (p.Gln2084=)	BIRC6	Single nucleotide variant (synonymous variant)	BIRC6-related disorder	GLikely benign
Select item 3045171	NM_016252.4(BIRC6):c.5454C>T (p.Asp1818=)	BIRC6	Single nucleotide variant (synonymous variant)	BIRC6-related disorder	GLikely benign
Select item 3042187	NM_016252.4(BIRC6):c.12411G>A (p.Ala4137=)	BIRC6	Single nucleotide variant (synonymous variant)	BIRC6-related disorder	GLikely benign
Select item 3041714	NM_016252.4(BIRC6):c.13144+6T>G	BIRC6	Single nucleotide variant (intron variant)	BIRC6-related disorder	GBenign
Select item 3041249	NM_016252.4(BIRC6):c.6051A>G (p.Thr2017=)	BIRC6	Single nucleotide variant (synonymous variant)	BIRC6-related disorder	GLikely benign
Select item 3041204	NM_016252.4(BIRC6):c.7697-3T>C	BIRC6	Single nucleotide variant (intron variant)	BIRC6-related disorder	GBenign
Select item 3041148	NM_016252.4(BIRC6):c.13993-6C>T	BIRC6	Single nucleotide variant (intron variant)	BIRC6-related disorder	GLikely benign
Select item 3040959	NM_016252.4(BIRC6):c.6270G>A (p.Arg2090=)	BIRC6	Single nucleotide variant (synonymous variant)	BIRC6-related disorder	GLikely benign
Select item 3040538	NM_016252.4(BIRC6):c.3716G>T (p.Gly1239Val)	BIRC6 (G1225V +1 more)	Single nucleotide variant (missense variant)	BIRC6-related disorder	GBenign
Select item 3040028	NM_016252.4(BIRC6):c.13062T>C (p.Asn4354=)	BIRC6	Single nucleotide variant (synonymous variant)	BIRC6-related disorder	GLikely benign
Select item 3039874	NM_016252.4(BIRC6):c.6063G>A (p.Glu2021=)	BIRC6	Single nucleotide variant (synonymous variant)	BIRC6-related disorder	GBenign
Select item 3039624	NM_016252.4(BIRC6):c.5610A>G (p.Arg1870=)	BIRC6	Single nucleotide variant (synonymous variant)	BIRC6-related disorder	GLikely benign
Select item 3039608	NM_016252.4(BIRC6):c.3500-10T>G	BIRC6	Single nucleotide variant (intron variant)	BIRC6-related disorder	GLikely benign

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