BIRC6[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 366

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 60108	GRCh38/hg38 2p23.1-22.3(chr2:31370181-32512769)x1	BIRC6, DPY30 +28 more	Copy number loss	See cases	GPathogenic
Select item 153430	GRCh38/hg38 2p22.3(chr2:32104942-32501212)x3	BIRC6, LOC129388840 +8 more	Copy number gain	See cases	GUncertain significance
Select item 148380	GRCh38/hg38 2p22.3(chr2:32107824-32499727)x3	BIRC6, LOC129388840 +8 more	Copy number gain	See cases	GUncertain significance
Select item 154534	GRCh38/hg38 2p22.3(chr2:32289459-33024069)x3	BIRC6, BIRC6-AS2 +17 more	Copy number gain	See cases	GBenign
Select item 2623439	NM_016252.4(BIRC6):c.10G>T (p.Gly4Cys)	BIRC6 (G4C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037379	NM_016252.4(BIRC6):c.12T>C (p.Gly4=)	BIRC6	Single nucleotide variant (synonymous variant)	BIRC6-related disorder	GBenign
Select item 2228199	NM_016252.4(BIRC6):c.19G>A (p.Ala7Thr)	BIRC6 (A7T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609142	NM_016252.4(BIRC6):c.23C>T (p.Ala8Val)	BIRC6 (A8V)	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 2514158	NM_016252.4(BIRC6):c.118G>C (p.Gly40Arg)	BIRC6, LOC129933458 (G12R +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 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 2389242	NM_016252.4(BIRC6):c.499G>A (p.Val167Ile)	BIRC6 (V167I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260959	NM_016252.4(BIRC6):c.544G>A (p.Asp182Asn)	BIRC6 (D182N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3260968	NM_016252.4(BIRC6):c.800G>A (p.Arg267His)	BIRC6 (R239H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374028	NM_016252.4(BIRC6):c.952C>G (p.Pro318Ala)	BIRC6 (P318A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226303	NM_016252.4(BIRC6):c.997G>A (p.Val333Ile)	BIRC6 (V305I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2631084	NM_016252.4(BIRC6):c.1158C>G (p.Asp386Glu)	BIRC6 (D358E +1 more)	Single nucleotide variant (missense variant)	BIRC6-related disorder	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 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 2317299	NM_016252.4(BIRC6):c.1328C>T (p.Pro443Leu)	BIRC6 (P415L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239879	NM_016252.4(BIRC6):c.1330A>C (p.Ser444Arg)	BIRC6 (S416R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335232	NM_016252.4(BIRC6):c.1441G>C (p.Asp481His)	BIRC6 (D481H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719772	NM_016252.4(BIRC6):c.1554A>G (p.Lys518=)	BIRC6	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3033181	NM_016252.4(BIRC6):c.1598A>G (p.Lys533Arg)	BIRC6 (K505R +1 more)	Single nucleotide variant (missense variant)	BIRC6-related disorder	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 2339231	NM_016252.4(BIRC6):c.1646G>A (p.Ser549Asn)	BIRC6 (S549N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717018	NM_016252.4(BIRC6):c.1679A>C (p.His560Pro)	BIRC6 (H560P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2499640	GRCh38/hg38 2p22.3(chr2:32415095-33099301)	MIR4765, MIR558 +17 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2354324	NM_016252.4(BIRC6):c.1814A>G (p.Gln605Arg)	BIRC6 (Q577R +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 3048271	NM_016252.4(BIRC6):c.1884G>A (p.Pro628=)	BIRC6	Single nucleotide variant (synonymous variant)	BIRC6-related disorder	GLikely benign
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 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 2630599	NM_016252.4(BIRC6):c.2017G>C (p.Asp673His)	BIRC6 (D645H +1 more)	Single nucleotide variant (missense variant)	BIRC6-related disorder	GUncertain significance
Select item 3057184	NM_016252.4(BIRC6):c.2037A>G (p.Leu679=)	BIRC6	Single nucleotide variant (synonymous variant)	BIRC6-related disorder	GBenign
Select item 2248726	NM_016252.4(BIRC6):c.2091C>A (p.Asn697Lys)	BIRC6 (N697K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030047	NM_016252.4(BIRC6):c.2113A>G (p.Lys705Glu)	BIRC6 (K677E +1 more)	Single nucleotide variant (missense variant)	BIRC6-related disorder	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 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 725333	NM_016252.4(BIRC6):c.2335A>C (p.Arg779=)	BIRC6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2605788	NM_016252.4(BIRC6):c.2372T>C (p.Val791Ala)	BIRC6 (V763A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650810	NM_016252.4(BIRC6):c.2423A>G (p.Gln808Arg)	BIRC6 (Q780R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3260974	NM_016252.4(BIRC6):c.2428C>G (p.Pro810Ala)	BIRC6 (P810A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326806	NM_016252.4(BIRC6):c.2471A>G (p.Tyr824Cys)	BIRC6 (Y824C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375481	NM_016252.4(BIRC6):c.2549A>G (p.Lys850Arg)	BIRC6 (K850R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2628777	NM_016252.4(BIRC6):c.2558A>G (p.Gln853Arg)	BIRC6 (Q825R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2611156	NM_016252.4(BIRC6):c.2566A>G (p.Ile856Val)	BIRC6 (I856V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288802	NM_016252.4(BIRC6):c.2578A>G (p.Ile860Val)	BIRC6 (I832V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514368	NM_016252.4(BIRC6):c.2632A>G (p.Ile878Val)	BIRC6 (I850V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3260973	NM_016252.4(BIRC6):c.2659A>G (p.Asn887Asp)	BIRC6 (N859D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650811	NM_016252.4(BIRC6):c.2682G>A (p.Thr894=)	BIRC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3039375	NM_016252.4(BIRC6):c.2844C>G (p.Gly948=)	BIRC6	Single nucleotide variant (synonymous variant)	BIRC6-related disorder	GLikely benign
Select item 2216124	NM_016252.4(BIRC6):c.2906C>A (p.Thr969Asn)	BIRC6 (T969N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533324	NM_016252.4(BIRC6):c.2909G>T (p.Cys970Phe)	BIRC6 (C970F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611717	NM_016252.4(BIRC6):c.2933T>C (p.Ile978Thr)	BIRC6 (I978T +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 3051742	NM_016252.4(BIRC6):c.3075A>G (p.Leu1025=)	BIRC6	Single nucleotide variant (synonymous variant)	BIRC6-related disorder	GLikely benign
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 2628566	NM_016252.4(BIRC6):c.3224G>A (p.Arg1075Gln)	BIRC6 (R1047Q +1 more)	Single nucleotide variant (missense variant)	BIRC6-related disorder	GUncertain significance
Select item 783022	NM_016252.4(BIRC6):c.3243C>T (p.Thr1081=)	BIRC6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2623686	NM_016252.4(BIRC6):c.3320A>G (p.Lys1107Arg)	BIRC6 (K1079R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780021	NM_016252.4(BIRC6):c.3324C>T (p.Phe1108=)	BIRC6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3260970	NM_016252.4(BIRC6):c.3325G>C (p.Val1109Leu)	BIRC6 (V1081L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598202	NM_016252.4(BIRC6):c.3347A>G (p.Asn1116Ser)	BIRC6 (N1116S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302423	NM_016252.4(BIRC6):c.3352C>T (p.Pro1118Ser)	BIRC6 (P1090S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281187	NM_016252.4(BIRC6):c.3398G>A (p.Gly1133Glu)	BIRC6 (G1133E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594750	NM_016252.4(BIRC6):c.3446C>T (p.Ser1149Phe)	BIRC6 (S1135F +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 3034092	NM_016252.4(BIRC6):c.3494C>G (p.Ser1165Ter)	BIRC6 (S1151* +1 more)	Single nucleotide variant (nonsense)	BIRC6-related disorder	GUncertain significance
Select item 3039608	NM_016252.4(BIRC6):c.3500-10T>G	BIRC6	Single nucleotide variant (intron variant)	BIRC6-related disorder	GLikely benign
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 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 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 2650812	NM_016252.4(BIRC6):c.3582A>G (p.Leu1194=)	BIRC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 146388	GRCh38/hg38 2p22.3(chr2:32438092-33069715)x3	BIRC6, BIRC6-AS2 +17 more	Copy number gain	See cases	GLikely benign
Select item 2280773	NM_016252.4(BIRC6):c.3671T>C (p.Val1224Ala)	BIRC6 (V1224A +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 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 2637348	NM_016252.4(BIRC6):c.3772T>G (p.Ser1258Ala)	BIRC6 (S1244A +1 more)	Single nucleotide variant (missense variant)	BIRC6-related disorder	GUncertain significance
Select item 3059224	NM_016252.4(BIRC6):c.3825T>C (p.Asn1275=)	BIRC6	Single nucleotide variant (synonymous variant)	BIRC6-related disorder	GBenign
Select item 996645	NM_016252.4(BIRC6):c.3931A>G (p.Ile1311Val)	BIRC6 (I1297V +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 2238523	NM_016252.4(BIRC6):c.4015A>C (p.Thr1339Pro)	BIRC6 (T1325P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767791	NM_016252.4(BIRC6):c.4028A>T (p.Gln1343Leu)	BIRC6 (Q1343L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780346	NM_016252.4(BIRC6):c.4101C>T (p.Pro1367=)	BIRC6	Single nucleotide variant (synonymous variant)	not provided	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 2219009	NM_016252.4(BIRC6):c.4152T>A (p.Phe1384Leu)	BIRC6 (F1384L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270195	NM_016252.4(BIRC6):c.4162A>G (p.Ile1388Val)	BIRC6 (I1388V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318723	NM_016252.4(BIRC6):c.4169G>A (p.Arg1390His)	BIRC6 (R1390H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722617	NM_016252.4(BIRC6):c.4311A>G (p.Ser1437=)	BIRC6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2302981	NM_016252.4(BIRC6):c.4462A>G (p.Met1488Val)	BIRC6 (M1488V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245297	NM_016252.4(BIRC6):c.4490G>T (p.Gly1497Val)	BIRC6 (G1497V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788394	NM_016252.4(BIRC6):c.4506A>G (p.Pro1502=)	BIRC6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 144608	GRCh38/hg38 2p22.3(chr2:32452615-33032312)x3	BIRC6, BIRC6-AS2 +15 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 160839	GRCh38/hg38 2p22.3(chr2:32452646-33032447)x3	BIRC6, BIRC6-AS2 +15 more	Copy number gain	See cases	GBenign

<< First< Prev

Page of 4