"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ANKS6"[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 796845	NM_173551.5(ANKS6):c.2487G>A (p.Ala829=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16 +1 more	GLikely benign
Select item 1130107	NM_173551.5(ANKS6):c.2409G>A (p.Ala803=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 722389	NM_173551.5(ANKS6):c.2395-7T>C	ANKS6	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 64358	NM_173551.5(ANKS6):c.2370_2372del (p.Tyr790_Gln791delinsTer)	ANKS6	Deletion (nonsense)	Nephronophthisis 16	GPathogenic
Select item 1090071	NM_173551.5(ANKS6):c.2343C>T (p.Ile781=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 1601229	NM_173551.5(ANKS6):c.2327-19dup	ANKS6	Duplication (intron variant)	Nephronophthisis 16	GBenign/Likely benign
Select item 1175034	NM_173551.5(ANKS6):c.2265G>A (p.Ser755=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 582762	NM_173551.5(ANKS6):c.2233G>A (p.Gly745Arg)	ANKS6 (G745R)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 1622976	NM_173551.5(ANKS6):c.2143-15T>C	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16	GLikely benign
Select item 1606122	NM_173551.5(ANKS6):c.2142+14G>T	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16	GLikely benign
Select item 567567	NM_173551.5(ANKS6):c.2105C>T (p.Pro702Leu)	ANKS6 (P702L)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 1520603	NM_173551.5(ANKS6):c.2077_2078delinsTT (p.Ala693Leu)	ANKS6 (A693L)	Indel (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 772254	NM_173551.5(ANKS6):c.1989T>C (p.Asn663=)	ANKS6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 962630	NM_173551.5(ANKS6):c.1948G>A (p.Gly650Ser)	ANKS6, LOC124310614 (G650S)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 720674	NM_173551.5(ANKS6):c.1947C>T (p.His649=)	ANKS6, LOC124310614	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
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 262846	NM_173551.5(ANKS6):c.1854C>T (p.Leu618=)	ANKS6, LOC124310614	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 474444	NM_173551.5(ANKS6):c.1782C>T (p.Ala594=)	ANKS6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 474443	NM_173551.5(ANKS6):c.1731G>A (p.Thr577=)	ANKS6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1621268	NM_173551.5(ANKS6):c.1617+12G>A	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16 +1 more	GLikely benign
Select item 262842	NM_173551.5(ANKS6):c.1533A>C (p.Ala511=)	ANKS6	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 262841	NM_173551.5(ANKS6):c.1458T>C (p.Pro486=)	ANKS6	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 843092	NM_173551.5(ANKS6):c.1421C>T (p.Thr474Met)	ANKS6 (T474M)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 857507	NM_173551.5(ANKS6):c.1391A>G (p.Asn464Ser)	ANKS6 (N464S)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 262839	NM_173551.5(ANKS6):c.1219+18A>T	ANKS6	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 715060	NM_173551.5(ANKS6):c.1185G>A (p.Thr395=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 262838	NM_173551.5(ANKS6):c.1134T>C (p.Tyr378=)	ANKS6	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 767282	NM_173551.5(ANKS6):c.1125T>C (p.Ile375=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GBenign/Likely benign
Select item 968826	NM_173551.5(ANKS6):c.1099G>T (p.Ala367Ser)	ANKS6 (A367S)	Single nucleotide variant (missense variant)	Nephronophthisis 16 +1 more	GUncertain significance
Select item 541406	NM_173551.5(ANKS6):c.1008G>A (p.Thr336=)	ANKS6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 541400	NM_173551.5(ANKS6):c.1007C>T (p.Thr336Met)	ANKS6 (T336M)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 774996	NM_173551.5(ANKS6):c.975C>T (p.Asp325=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GBenign/Likely benign
Select item 1041443	NM_173551.5(ANKS6):c.915C>A (p.Phe305Leu)	ANKS6 (F305L)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 262858	NM_173551.5(ANKS6):c.908-16C>T	ANKS6	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 741159	NM_173551.5(ANKS6):c.907+8C>G	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16 +1 more	GLikely benign
Select item 937024	NM_173551.5(ANKS6):c.907+6C>T	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16	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 262857	NM_173551.5(ANKS6):c.862+20G>A	ANKS6	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 474455	NM_173551.5(ANKS6):c.847G>A (p.Val283Ile)	ANKS6 (V283I)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 1486559	NM_173551.5(ANKS6):c.690G>A (p.Met230Ile)	ANKS6 (M230I)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 641730	NM_173551.5(ANKS6):c.664C>G (p.Arg222Gly)	ANKS6 (R222G)	Single nucleotide variant (missense variant)	Nephronophthisis 16 +1 more	GUncertain significance
Select item 262855	NM_173551.5(ANKS6):c.615C>T (p.Ala205=)	ANKS6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 262854	NM_173551.5(ANKS6):c.609C>T (p.His203=)	ANKS6	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 541405	NM_173551.5(ANKS6):c.603C>T (p.His201=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GBenign/Likely benign
Select item 262852	NM_173551.5(ANKS6):c.537A>G (p.Gln179=)	ANKS6	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 759565	NM_173551.5(ANKS6):c.498C>T (p.Ala166=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16 +1 more	GLikely benign
Select item 853983	NM_173551.5(ANKS6):c.457C>T (p.Arg153Trp)	ANKS6 (R153W)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 474452	NM_173551.5(ANKS6):c.413A>G (p.Asn138Ser)	ANKS6 (N138S)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 388126	NM_173551.5(ANKS6):c.407A>C (p.Asp136Ala)	ANKS6 (D136A)	Single nucleotide variant (missense variant)	Nephronophthisis 16 +1 more	GUncertain significance
Select item 1105371	NM_173551.5(ANKS6):c.354G>A (p.Ala118=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
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 591737	NM_173551.5(ANKS6):c.130_157del (p.Glu44fs)	ANKS6 (E44fs)	Deletion (frameshift variant)	Nephronophthisis 16	GPathogenic
Select item 1325997	NM_173551.5(ANKS6):c.155C>T (p.Ala52Val)	ANKS6 (A52V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1436944	NM_173551.5(ANKS6):c.95G>C (p.Gly32Ala)	ANKS6 (G32A)	Single nucleotide variant (missense variant)	Nephronophthisis 16	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

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Items: 59