EXOC6B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 144474	GRCh38/hg38 2p13.3-13.2(chr2:70709155-72346899)x3	ADD2, ANKRD53 +48 more	Copy number gain	See cases	GUncertain significance
Select item 774830	NM_015189.3(EXOC6B):c.2429A>G (p.His810Arg)	EXOC6B (H769R +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 1946245	NM_015189.3(EXOC6B):c.2428C>T (p.His810Tyr)	EXOC6B (H765Y +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2580084	NM_015189.3(EXOC6B):c.2365C>T (p.Arg789Ter)	EXOC6B (R680* +4 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 2269471	NM_015189.3(EXOC6B):c.2353C>T (p.Arg785Trp)	EXOC6B (R676W +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1567098	NM_015189.3(EXOC6B):c.2343T>C (p.Phe781=)	EXOC6B	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2186099	NM_015189.3(EXOC6B):c.2340G>A (p.Met780Ile)	EXOC6B (M780I +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1363136	NM_015189.3(EXOC6B):c.2333ACA[1] (p.Asn779del)	EXOC6B (N783del +4 more)	Microsatellite (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2536462	NM_015189.3(EXOC6B):c.2336A>G (p.Asn779Ser)	EXOC6B (N670S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2125741	NM_015189.3(EXOC6B):c.2309+1169G>T	EXOC6B	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 1663641	NM_015189.3(EXOC6B):c.2309+1162C>T	EXOC6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1561857	NM_015189.3(EXOC6B):c.2309+17A>G	EXOC6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1642079	NM_015189.3(EXOC6B):c.2309+15C>T	EXOC6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 713677	NM_015189.3(EXOC6B):c.2309+8C>G	EXOC6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3031975	NM_015189.3(EXOC6B):c.2309+2T>A	EXOC6B	Single nucleotide variant (splice donor variant)	EXOC6B-related disorder	GUncertain significance
Select item 727229	NM_015189.3(EXOC6B):c.2289T>C (p.Thr763=)	EXOC6B	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2817007	NM_015189.3(EXOC6B):c.2274G>A (p.Arg758=)	EXOC6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1909101	NM_015189.3(EXOC6B):c.2272C>T (p.Arg758Trp)	EXOC6B (R645W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3029355	NM_015189.3(EXOC6B):c.2225G>T (p.Trp742Leu)	EXOC6B (W629L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	EXOC6B-related disorder	GUncertain significance
Select item 1628816	NM_015189.3(EXOC6B):c.2197-5del	EXOC6B	Deletion (intron variant)	not provided	GBenign
Select item 1911065	NM_015189.3(EXOC6B):c.2197-17G>T	EXOC6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1801441	NM_015189.3(EXOC6B):c.2197-66917_2197-66916insTAAATATATTTTAATTAAATTACATTATTAAATATCAATCAG	EXOC6B	Insertion (intron variant)	Schizophrenia	GUncertain significance
Select item 3000931	NM_015189.3(EXOC6B):c.2196+20T>G	EXOC6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984845	NM_015189.3(EXOC6B):c.2196+9T>C	EXOC6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009996	NM_015189.3(EXOC6B):c.2196+3A>G	EXOC6B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1466793	NM_015189.3(EXOC6B):c.2196A>G (p.Gln732=)	EXOC6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2902517	NM_015189.3(EXOC6B):c.2187C>T (p.Asp729=)	EXOC6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1625464	NM_015189.3(EXOC6B):c.2166G>A (p.Thr722=)	EXOC6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2602752	NM_015189.3(EXOC6B):c.2159A>G (p.Glu720Gly)	EXOC6B (E720G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1584765	NM_015189.3(EXOC6B):c.2142G>A (p.Pro714=)	EXOC6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1424485	NM_015189.3(EXOC6B):c.2141C>T (p.Pro714Leu)	EXOC6B (P714L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1548787	NM_015189.3(EXOC6B):c.2136C>T (p.Ser712=)	EXOC6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1672371	NM_015189.3(EXOC6B):c.2123-13_2123-12del	EXOC6B	Deletion (intron variant)	not provided	GBenign
Select item 1180431	NC_000002.12:g.72371236_72504801del	EXOC6B	Deletion	See cases	Gnot provided
Select item 1901333	NM_015189.3(EXOC6B):c.2122+19C>T	EXOC6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1660872	NM_015189.3(EXOC6B):c.2122+17C>T	EXOC6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3335928	NM_015189.3(EXOC6B):c.2122+1G>A	EXOC6B	Single nucleotide variant (splice donor variant)	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	GLikely pathogenic
Select item 2234588	NM_015189.3(EXOC6B):c.2113G>C (p.Glu705Gln)	EXOC6B (E592Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1917890	NM_015189.3(EXOC6B):c.2085A>G (p.Ala695=)	EXOC6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1494034	NM_015189.3(EXOC6B):c.2066G>A (p.Arg689Gln)	EXOC6B (R644Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1609876	NM_015189.3(EXOC6B):c.2001G>A (p.Ala667=)	EXOC6B	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1397826	NM_015189.3(EXOC6B):c.2000C>T (p.Ala667Val)	EXOC6B (A554V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1601328	NM_015189.3(EXOC6B):c.1981-8T>C	EXOC6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1900036	NM_015189.3(EXOC6B):c.1981-11T>C	EXOC6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020341	NM_015189.3(EXOC6B):c.1981-12C>T	EXOC6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1659158	NM_015189.3(EXOC6B):c.1981-12C>A	EXOC6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1952790	NM_015189.3(EXOC6B):c.1981-13T>C	EXOC6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3251114	NM_015189.3(EXOC6B):c.1980+30A>G	EXOC6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601386	NM_015189.3(EXOC6B):c.1980+15_1980+16dup	EXOC6B	Duplication (intron variant)	not provided	GBenign
Select item 1922474	NM_015189.3(EXOC6B):c.1980+14_1980+15dup	EXOC6B	Duplication (intron variant)	not provided	GUncertain significance
Select item 1531549	NM_015189.3(EXOC6B):c.1980+9C>T	EXOC6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910439	NM_015189.3(EXOC6B):c.1965A>T (p.Val655=)	EXOC6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2853320	NM_015189.3(EXOC6B):c.1950T>C (p.Arg650=)	EXOC6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2155108	NM_015189.3(EXOC6B):c.1948C>G (p.Arg650Gly)	EXOC6B (R605G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1962037	NM_015189.3(EXOC6B):c.1937T>C (p.Ile646Thr)	EXOC6B (I533T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2078128	NM_015189.3(EXOC6B):c.1914T>C (p.Ala638=)	EXOC6B	Single nucleotide variant (synonymous variant +1 more)	EXOC6B-related disorder +1 more	GLikely benign
Select item 2309136	NM_015189.3(EXOC6B):c.1907A>C (p.Asn636Thr)	EXOC6B (N523T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2116580	NM_015189.3(EXOC6B):c.1903G>T (p.Gly635Cys)	EXOC6B (G522C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1378348	NM_015189.3(EXOC6B):c.1898A>G (p.Asp633Gly)	EXOC6B (D633G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1642778	NM_015189.3(EXOC6B):c.1893C>T (p.Thr631=)	EXOC6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1959896	NM_015189.3(EXOC6B):c.1848G>A (p.Gln616=)	EXOC6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 521377	NM_015189.3(EXOC6B):c.1801-2A>G	EXOC6B	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2957950	NM_015189.3(EXOC6B):c.1800+16_1800+20del	EXOC6B	Deletion (intron variant)	not provided	GLikely benign
Select item 2973852	NM_015189.3(EXOC6B):c.1800+16del	EXOC6B	Deletion (intron variant)	not provided	GLikely benign
Select item 2003037	NM_015189.3(EXOC6B):c.1778T>C (p.Leu593Pro)	EXOC6B (L593P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2339880	NM_015189.3(EXOC6B):c.1771A>G (p.Thr591Ala)	EXOC6B (T478A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 775732	NM_015189.3(EXOC6B):c.1761A>T (p.Thr587=)	EXOC6B	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2057270	NM_015189.3(EXOC6B):c.1750C>T (p.Leu584Phe)	EXOC6B (L471F +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 721582	NM_015189.3(EXOC6B):c.1673A>G (p.Gln558Arg)	EXOC6B (Q445R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1246374	NM_015189.3(EXOC6B):c.1671T>C (p.Val557=)	EXOC6B	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1538668	NM_015189.3(EXOC6B):c.1666-4C>T	EXOC6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1987442	NM_015189.3(EXOC6B):c.1666-16G>A	EXOC6B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1908558	NM_015189.3(EXOC6B):c.1666-18G>A	EXOC6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870350	NM_015189.3(EXOC6B):c.1666-20A>G	EXOC6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 715445	NM_015189.3(EXOC6B):c.1665+6C>G	EXOC6B	Single nucleotide variant (intron variant)	EXOC6B-related disorder +1 more	GBenign
Select item 2053352	NM_015189.3(EXOC6B):c.1652T>C (p.Ile551Thr)	EXOC6B (I551T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1392448	NM_015189.3(EXOC6B):c.1649A>G (p.Asn550Ser)	EXOC6B (N437S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3091146	NM_015189.3(EXOC6B):c.1633G>C (p.Val545Leu)	EXOC6B (V432L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493260	NM_015189.3(EXOC6B):c.1616G>A (p.Ser539Asn)	EXOC6B (S426N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1413222	NM_015189.3(EXOC6B):c.1609A>T (p.Thr537Ser)	EXOC6B (T424S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3091145	NM_015189.3(EXOC6B):c.1608G>C (p.Arg536Ser)	EXOC6B (R536S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1502142	NM_015189.3(EXOC6B):c.1588A>G (p.Thr530Ala)	EXOC6B (T417A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 775733	NM_015189.3(EXOC6B):c.1581G>T (p.Arg527=)	EXOC6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1480458	NM_015189.3(EXOC6B):c.1580G>A (p.Arg527Gln)	EXOC6B (R414Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2187451	NM_015189.3(EXOC6B):c.1554-10T>C	EXOC6B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1376184	NM_015189.3(EXOC6B):c.1553+3A>C	EXOC6B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1510292	NM_015189.3(EXOC6B):c.1547A>G (p.His516Arg)	EXOC6B (H403R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2227347	NM_015189.3(EXOC6B):c.1523G>C (p.Cys508Ser)	EXOC6B (C395S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1538126	NM_015189.3(EXOC6B):c.1521T>C (p.Ala507=)	EXOC6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1904475	NM_015189.3(EXOC6B):c.1519G>A (p.Ala507Thr)	EXOC6B (A394T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 723923	NM_015189.3(EXOC6B):c.1518C>T (p.Tyr506=)	EXOC6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1489863	NM_015189.3(EXOC6B):c.1490T>C (p.Val497Ala)	EXOC6B (V384A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2465958	NM_015189.3(EXOC6B):c.1486A>G (p.Lys496Glu)	EXOC6B (K383E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2900558	NM_015189.3(EXOC6B):c.1483C>T (p.Pro495Ser)	EXOC6B (P382S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3091144	NM_015189.3(EXOC6B):c.1464T>G (p.Phe488Leu)	EXOC6B (F375L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1666291	NM_015189.3(EXOC6B):c.1452T>C (p.Phe484=)	EXOC6B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2134750	NM_015189.3(EXOC6B):c.1433A>G (p.Glu478Gly)	EXOC6B (E365G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2367790	NM_015189.3(EXOC6B):c.1430T>C (p.Ile477Thr)	EXOC6B (I364T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign

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