"Ambry Genetics"[submitter] AND "EXOC6B"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1946245	NM_015189.3(EXOC6B):c.2428C>T (p.His810Tyr)	EXOC6B (H765Y +4 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	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 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 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 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 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 1378348	NM_015189.3(EXOC6B):c.1898A>G (p.Asp633Gly)	EXOC6B (D633G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 521377	NM_015189.3(EXOC6B):c.1801-2A>G	EXOC6B	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 2465958	NM_015189.3(EXOC6B):c.1486A>G (p.Lys496Glu)	EXOC6B (K383E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 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
Select item 2367673	NM_015189.3(EXOC6B):c.1429A>C (p.Ile477Leu)	EXOC6B (I364L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276809	NM_015189.3(EXOC6B):c.1378A>G (p.Thr460Ala)	EXOC6B (T347A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091143	NM_015189.3(EXOC6B):c.1351T>C (p.Ser451Pro)	EXOC6B (S338P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339720	NM_015189.3(EXOC6B):c.1324G>A (p.Ala442Thr)	EXOC6B (A442T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249388	NM_015189.3(EXOC6B):c.1316A>G (p.Lys439Arg)	EXOC6B (K326R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611933	NM_015189.3(EXOC6B):c.1269T>G (p.Phe423Leu)	EXOC6B (F310L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480709	NM_015189.3(EXOC6B):c.1187A>C (p.Asn396Thr)	EXOC6B (N283T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589695	NM_015189.3(EXOC6B):c.890G>A (p.Arg297Gln)	EXOC6B (R184Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2088245	NM_015189.3(EXOC6B):c.860A>G (p.Gln287Arg)	EXOC6B (Q174R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2283032	NM_015189.3(EXOC6B):c.788C>T (p.Pro263Leu)	EXOC6B (P150L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1443881	NM_015189.3(EXOC6B):c.740A>G (p.Lys247Arg)	EXOC6B (K134R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2401679	NM_015189.3(EXOC6B):c.713C>A (p.Pro238His)	EXOC6B (P238H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318102	NM_015189.3(EXOC6B):c.658G>T (p.Ala220Ser)	EXOC6B (A220S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535386	NM_015189.3(EXOC6B):c.601G>T (p.Asp201Tyr)	EXOC6B (D201Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1412678	NM_015189.3(EXOC6B):c.596T>C (p.Met199Thr)	EXOC6B (M86T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3091149	NM_015189.3(EXOC6B):c.559A>C (p.Ile187Leu)	EXOC6B (I187L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091148	NM_015189.3(EXOC6B):c.443G>A (p.Arg148Lys)	EXOC6B (R148K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2065717	NM_015189.3(EXOC6B):c.385G>A (p.Ala129Thr)	EXOC6B (A16T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3276808	NM_015189.3(EXOC6B):c.334A>G (p.Ile112Val)	EXOC6B (I112V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1364978	NM_015189.3(EXOC6B):c.328C>T (p.Leu110=)	EXOC6B	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2148427	NM_015189.3(EXOC6B):c.290C>T (p.Thr97Met)	EXOC6B (T97M)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2191605	NM_015189.3(EXOC6B):c.167G>A (p.Arg56His)	EXOC6B (R56H)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1989447	NM_015189.3(EXOC6B):c.167G>T (p.Arg56Leu)	EXOC6B (R56L)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 3091147	NM_015189.3(EXOC6B):c.164C>G (p.Thr55Ser)	EXOC6B (T55S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3276810	NM_015189.3(EXOC6B):c.148A>T (p.Met50Leu)	EXOC6B (M50L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 46