"Ambry Genetics"[submitter] AND "DVL2"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3086393	NM_004422.3(DVL2):c.2206A>T (p.Met736Leu)	DVL2 (M736L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086392	NM_004422.3(DVL2):c.2185A>C (p.Ser729Arg)	DVL2 (S729R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086391	NM_004422.3(DVL2):c.2096C>T (p.Pro699Leu)	DVL2 (P699L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274122	NM_004422.3(DVL2):c.2068C>T (p.Pro690Ser)	DVL2 (P690S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086390	NM_004422.3(DVL2):c.1886G>A (p.Gly629Asp)	DVL2 (G629D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533320	NM_004422.3(DVL2):c.1880G>A (p.Arg627Gln)	DVL2 (R627Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247449	NM_004422.3(DVL2):c.1831G>T (p.Ala611Ser)	DVL2 (A611S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086389	NM_004422.3(DVL2):c.1826A>G (p.Glu609Gly)	DVL2 (E609G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466140	NM_004422.3(DVL2):c.1814G>C (p.Gly605Ala)	DVL2 (G605A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481946	NM_004422.3(DVL2):c.1796G>C (p.Gly599Ala)	DVL2 (G599A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300220	NM_004422.3(DVL2):c.1727A>G (p.Tyr576Cys)	DVL2 (Y576C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086387	NM_004422.3(DVL2):c.1724C>T (p.Thr575Ile)	DVL2 (T575I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086386	NM_004422.3(DVL2):c.1705C>T (p.His569Tyr)	DVL2 (H569Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086385	NM_004422.3(DVL2):c.1658A>T (p.Tyr553Phe)	DVL2 (Y553F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232736	NM_004422.3(DVL2):c.1414C>T (p.Arg472Trp)	DVL2 (R472W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274119	NM_004422.3(DVL2):c.1396G>A (p.Val466Met)	DVL2 (V466M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409398	NM_004422.3(DVL2):c.1258C>T (p.His420Tyr)	DVL2 (H420Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086384	NM_004422.3(DVL2):c.1255G>T (p.Val419Phe)	DVL2 (V419F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239874	NM_004422.3(DVL2):c.1255G>A (p.Val419Ile)	DVL2 (V419I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3086383	NM_004422.3(DVL2):c.1243C>T (p.Arg415Trp)	DVL2 (R415W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547297	NM_004422.3(DVL2):c.1153G>A (p.Ala385Thr)	DVL2 (A385T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274115	NM_004422.3(DVL2):c.1151C>T (p.Ala384Val)	DVL2 (A384V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274114	NM_004422.3(DVL2):c.1100G>A (p.Arg367Gln)	DVL2 (R367Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604939	NM_004422.3(DVL2):c.1061G>A (p.Cys354Tyr)	DVL2 (C354Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361842	NM_004422.3(DVL2):c.1018A>G (p.Ile340Val)	DVL2 (I340V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286338	NM_004422.3(DVL2):c.967A>T (p.Met323Leu)	DVL2 (M323L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086400	NM_004422.3(DVL2):c.931A>G (p.Ile311Val)	DVL2 (I311V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312974	NM_004422.3(DVL2):c.882C>G (p.Ile294Met)	DVL2 (I294M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274121	NM_004422.3(DVL2):c.806C>G (p.Thr269Arg)	DVL2 (T269R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388372	NM_004422.3(DVL2):c.790A>G (p.Asn264Asp)	DVL2 (N264D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274120	NM_004422.3(DVL2):c.689C>T (p.Ser230Phe)	DVL2, LOC126862480 (S230F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086399	NM_004422.3(DVL2):c.647C>T (p.Thr216Ile)	DVL2, LOC126862480 (T216I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536876	NM_004422.3(DVL2):c.636C>G (p.Asp212Glu)	DVL2, LOC126862480 (D212E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086398	NM_004422.3(DVL2):c.622C>G (p.Leu208Val)	DVL2, LOC126862480 (L208V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212050	NM_004422.3(DVL2):c.559C>T (p.Arg187Cys)	DVL2, LOC126862480 (R187C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086397	NM_004422.3(DVL2):c.542G>A (p.Gly181Asp)	DVL2, LOC126862480 (G181D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492792	NM_004422.3(DVL2):c.481C>T (p.Arg161Trp)	DVL2, LOC126862480 (R161W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279789	NM_004422.3(DVL2):c.442G>C (p.Glu148Gln)	DVL2, LOC126862480 (E148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086396	NM_004422.3(DVL2):c.383T>C (p.Ile128Thr)	DVL2, LOC126862480 (I128T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245551	NM_004422.3(DVL2):c.374C>T (p.Thr125Ile)	DVL2, LOC126862480 (T125I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520624	NM_004422.3(DVL2):c.356C>T (p.Pro119Leu)	DVL2, LOC126862480 (P119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274113	NM_004422.3(DVL2):c.341C>T (p.Ala114Val)	DVL2, LOC126862480 (A114V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086394	NM_004422.3(DVL2):c.301C>T (p.Pro101Ser)	DVL2, LOC126862480 (P101S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593353	NM_004422.3(DVL2):c.289C>T (p.Pro97Ser)	DVL2, LOC126862480 (P97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274118	NM_004422.3(DVL2):c.272C>A (p.Ser91Tyr)	DVL2, LOC126862480 (S91Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294784	NM_004422.3(DVL2):c.178A>G (p.Met60Val)	DVL2 (M60V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086382	NM_004422.3(DVL2):c.106G>C (p.Glu36Gln)	DVL2 (E36Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620287	NM_004422.3(DVL2):c.53A>G (p.Tyr18Cys)	DVL2 (Y18C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086395	NM_004422.3(DVL2):c.32T>C (p.Val11Ala)	DVL2 (V11A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316485	NM_004422.3(DVL2):c.14G>T (p.Ser5Ile)	DVL2 (S5I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 50