"Ambry Genetics"[submitter] AND "ANKS6"[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2067351	NM_173551.5(ANKS6):c.2578A>G (p.Ser860Gly)	ANKS6 (S860G)	Single nucleotide variant (missense variant)	Nephronophthisis 16 +1 more	GUncertain significance
Select item 3127029	NM_173551.5(ANKS6):c.2516G>A (p.Arg839His)	ANKS6 (R839H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127028	NM_173551.5(ANKS6):c.2511+6G>A	ANKS6	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3127027	NM_173551.5(ANKS6):c.2373G>T (p.Gln791His)	ANKS6 (Q791H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479956	NM_173551.5(ANKS6):c.2372A>G (p.Gln791Arg)	ANKS6 (Q791R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127026	NM_173551.5(ANKS6):c.2280G>T (p.Gln760His)	ANKS6 (Q760H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 541402	NM_173551.5(ANKS6):c.2264C>T (p.Ser755Leu)	ANKS6 (S755L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2026384	NM_173551.5(ANKS6):c.2225C>T (p.Ser742Leu)	ANKS6 (S742L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 579133	NM_173551.5(ANKS6):c.2197A>C (p.Thr733Pro)	ANKS6 (T733P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2289823	NM_173551.5(ANKS6):c.2168C>T (p.Pro723Leu)	ANKS6 (P723L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127025	NM_173551.5(ANKS6):c.1966C>T (p.Arg656Cys)	ANKS6, LOC124310614 (R656C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127024	NM_173551.5(ANKS6):c.1943G>A (p.Arg648Gln)	ANKS6, LOC124310614 (R648Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1011328	NM_173551.5(ANKS6):c.1942C>T (p.Arg648Trp)	ANKS6, LOC124310614 (R648W)	Single nucleotide variant (missense variant)	Nephronophthisis 16 +1 more	GUncertain significance
Select item 474446	NM_173551.5(ANKS6):c.1913C>T (p.Ser638Leu)	ANKS6, LOC124310614 (S638L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2549436	NM_173551.5(ANKS6):c.1901C>T (p.Ser634Leu)	ANKS6, LOC124310614 (S634L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2053176	NM_173551.5(ANKS6):c.1820C>T (p.Thr607Ile)	ANKS6 (T607I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3127023	NM_173551.5(ANKS6):c.1807G>A (p.Gly603Arg)	ANKS6 (G603R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127022	NM_173551.5(ANKS6):c.1798G>A (p.Val600Met)	ANKS6 (V600M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298421	NM_173551.5(ANKS6):c.1766C>T (p.Ala589Val)	ANKS6 (A589V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1997981	NM_173551.5(ANKS6):c.1766C>A (p.Ala589Glu)	ANKS6 (A589E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3298393	NM_173551.5(ANKS6):c.1736A>G (p.His579Arg)	ANKS6 (H579R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312011	NM_173551.5(ANKS6):c.1732C>T (p.Arg578Cys)	ANKS6 (R578C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2328622	NM_173551.5(ANKS6):c.1544C>T (p.Ala515Val)	ANKS6 (A515V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 958951	NM_173551.5(ANKS6):c.1528T>C (p.Ser510Pro)	ANKS6 (S510P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3298412	NM_173551.5(ANKS6):c.1450C>T (p.Pro484Ser)	ANKS6 (P484S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1363947	NM_173551.5(ANKS6):c.1430G>A (p.Arg477His)	ANKS6 (R477H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1384489	NM_173551.5(ANKS6):c.1429C>A (p.Arg477Ser)	ANKS6 (R477S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3127020	NM_173551.5(ANKS6):c.1409A>G (p.Lys470Arg)	ANKS6 (K470R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2201472	NM_173551.5(ANKS6):c.1301T>C (p.Leu434Pro)	ANKS6 (L434P)	Single nucleotide variant (missense variant)	Nephronophthisis 16 +2 more	GConflicting classifications of pathogenicity
Select item 3127019	NM_173551.5(ANKS6):c.1280G>A (p.Arg427Gln)	ANKS6 (R427Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345020	NM_173551.5(ANKS6):c.1279C>T (p.Arg427Trp)	ANKS6 (R427W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325502	NM_173551.5(ANKS6):c.1268A>G (p.Lys423Arg)	ANKS6 (K423R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2064458	NM_173551.5(ANKS6):c.1048G>A (p.Ala350Thr)	ANKS6 (A350T)	Single nucleotide variant (missense variant)	Nephronophthisis 16 +1 more	GUncertain significance
Select item 3298432	NM_173551.5(ANKS6):c.955G>T (p.Val319Leu)	ANKS6 (V319L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1693374	NM_173551.5(ANKS6):c.904A>G (p.Met302Val)	ANKS6 (M302V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2397460	NM_173551.5(ANKS6):c.836C>T (p.Pro279Leu)	ANKS6 (P279L)	Single nucleotide variant (missense variant)	Nephronophthisis 16 +1 more	GUncertain significance
Select item 3127033	NM_173551.5(ANKS6):c.781G>A (p.Ala261Thr)	ANKS6 (A261T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206637	NM_173551.5(ANKS6):c.745G>A (p.Ala249Thr)	ANKS6 (A249T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2752092	NM_173551.5(ANKS6):c.665G>A (p.Arg222Gln)	ANKS6 (R222Q)	Single nucleotide variant (missense variant)	Nephronophthisis 16 +1 more	GConflicting classifications of pathogenicity
Select item 2249230	NM_173551.5(ANKS6):c.658G>C (p.Ala220Pro)	ANKS6 (A220P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515776	NM_173551.5(ANKS6):c.652A>C (p.Asn218His)	ANKS6 (N218H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1396682	NM_173551.5(ANKS6):c.643G>A (p.Ala215Thr)	ANKS6 (A215T)	Single nucleotide variant (missense variant)	Nephronophthisis 16 +1 more	GUncertain significance
Select item 2042717	NM_173551.5(ANKS6):c.607C>T (p.His203Tyr)	ANKS6 (H203Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3127031	NM_173551.5(ANKS6):c.596T>G (p.Ile199Ser)	ANKS6 (I199S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247425	NM_173551.5(ANKS6):c.578C>A (p.Thr193Lys)	ANKS6 (T193K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298380	NM_173551.5(ANKS6):c.550G>A (p.Gly184Ser)	ANKS6 (G184S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 474453	NM_173551.5(ANKS6):c.532G>A (p.Glu178Lys)	ANKS6 (E178K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2492216	NM_173551.5(ANKS6):c.529G>C (p.Gly177Arg)	ANKS6 (G177R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127030	NM_173551.5(ANKS6):c.524C>T (p.Pro175Leu)	ANKS6 (P175L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410130	NM_173551.5(ANKS6):c.436A>G (p.Ser146Gly)	ANKS6 (S146G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374569	NM_173551.5(ANKS6):c.425G>A (p.Arg142Gln)	ANKS6 (R142Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519950	NM_173551.5(ANKS6):c.409G>A (p.Val137Ile)	ANKS6 (V137I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 798171	NM_173551.5(ANKS6):c.281T>C (p.Val94Ala)	ANKS6 (V94A)	Single nucleotide variant (missense variant)	Nephronophthisis 16 +2 more	GConflicting classifications of pathogenicity
Select item 2554371	NM_173551.5(ANKS6):c.219C>G (p.Cys73Trp)	ANKS6 (C73W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 474447	NM_173551.5(ANKS6):c.193G>T (p.Val65Phe)	ANKS6 (V65F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1031714	NM_173551.5(ANKS6):c.190G>C (p.Ala64Pro)	ANKS6 (A64P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3127021	NM_173551.5(ANKS6):c.178G>A (p.Ala60Thr)	ANKS6 (A60T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600065	NM_173551.5(ANKS6):c.92C>T (p.Pro31Leu)	ANKS6 (P31L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1022850	NM_173551.5(ANKS6):c.19C>T (p.Pro7Ser)	ANKS6 (P7S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 962631	NM_173551.5(ANKS6):c.7G>C (p.Glu3Gln)	ANKS6 (E3Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3127032	NM_173551.5(ANKS6):c.5G>A (p.Gly2Asp)	ANKS6 (G2D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 61