ClinVar for MedGen (Select 815650) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064978	NM_173551.5(ANKS6):c.1559A>C (p.Lys520Thr)	ANKS6 (K520T)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 3064818	NM_173551.5(ANKS6):c.1159A>C (p.Thr387Pro)	ANKS6 (T387P)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 3011041	NM_173551.5(ANKS6):c.846C>T (p.Thr282=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 3002723	NM_173551.5(ANKS6):c.723C>T (p.Ala241=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 2994532	NM_173551.5(ANKS6):c.669C>T (p.Thr223=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 2984538	NM_173551.5(ANKS6):c.2142+11T>C	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16	GLikely benign
Select item 2982283	NM_173551.5(ANKS6):c.1096C>T (p.Gln366Ter)	ANKS6 (Q366*)	Single nucleotide variant (nonsense)	Nephronophthisis 16	GPathogenic
Select item 2916551	NM_173551.5(ANKS6):c.1361G>A (p.Gly454Glu)	ANKS6 (G454E)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2913258	NM_173551.5(ANKS6):c.1980C>T (p.Ser660=)	ANKS6	Single nucleotide variant (synonymous variant)	ANKS6-related condition +1 more	GLikely benign
Select item 2905423	NM_173551.5(ANKS6):c.837G>T (p.Pro279=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 2903063	NM_173551.5(ANKS6):c.2142+20T>G	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16	GLikely benign
Select item 2899933	NM_173551.5(ANKS6):c.744C>T (p.Gly248=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 2883386	NM_173551.5(ANKS6):c.1683_1698dup (p.Phe567fs)	ANKS6 (F567fs)	Duplication (frameshift variant)	Nephronophthisis 16	GPathogenic
Select item 2881274	NM_173551.5(ANKS6):c.189_190del (p.Ala64fs)	ANKS6 (A64fs)	Deletion (frameshift variant)	Nephronophthisis 16	GPathogenic
Select item 2864536	NM_173551.5(ANKS6):c.24G>T (p.Pro8=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 2864118	NM_173551.5(ANKS6):c.2143-10T>C	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16	GLikely benign
Select item 2849505	NM_173551.5(ANKS6):c.1407C>G (p.Leu469=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 2849184	NM_173551.5(ANKS6):c.741G>A (p.Lys247=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 2828394	NM_173551.5(ANKS6):c.399C>T (p.His133=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 2828015	NM_173551.5(ANKS6):c.2177C>T (p.Thr726Ile)	ANKS6 (T726I)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2816438	NM_173551.5(ANKS6):c.1626C>T (p.Asn542=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 2809759	NM_173551.5(ANKS6):c.288C>T (p.Phe96=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 2772998	NM_173551.5(ANKS6):c.2394+8T>C	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16	GLikely benign
Select item 2752092	NM_173551.5(ANKS6):c.665G>A (p.Arg222Gln)	ANKS6 (R222Q)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GLikely benign
Select item 2745497	NM_173551.5(ANKS6):c.996A>G (p.Leu332=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 2741418	NM_173551.5(ANKS6):c.2395-12C>A	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16	GLikely benign
Select item 2738537	NM_173551.5(ANKS6):c.862+19dup	ANKS6	Duplication (intron variant)	Nephronophthisis 16	GBenign
Select item 2733347	NM_173551.5(ANKS6):c.411C>G (p.Val137=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 2728753	NM_173551.5(ANKS6):c.45C>T (p.Arg15=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 2728474	NM_173551.5(ANKS6):c.1331G>A (p.Ser444Asn)	ANKS6 (S444N)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2728473	NM_173551.5(ANKS6):c.2092C>G (p.Pro698Ala)	ANKS6 (P698A)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2725953	NM_173551.5(ANKS6):c.1973-6C>T	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16	GLikely benign
Select item 2724488	NM_173551.5(ANKS6):c.2394+15T>C	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16	GLikely benign
Select item 2722601	NM_173551.5(ANKS6):c.2080C>T (p.Pro694Ser)	ANKS6 (P694S)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2720488	NM_173551.5(ANKS6):c.359+7C>T	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16	GLikely benign
Select item 2715297	NM_173551.5(ANKS6):c.2127C>T (p.Ser709=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GBenign
Select item 2713575	NM_173551.5(ANKS6):c.1618-13C>T	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16	GLikely benign
Select item 2713262	NM_173551.5(ANKS6):c.2220C>T (p.Ser740=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16 +1 more	GLikely benign
Select item 2501784	NM_173551.5(ANKS6):c.2142G>T (p.Lys714Asn)	ANKS6 (K714N)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GLikely pathogenic
Select item 2439104	NM_173551.5(ANKS6):c.1235G>A (p.Arg412Gln)	ANKS6 (R412Q)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2430833	NM_173551.5(ANKS6):c.2270C>G (p.Ser757Cys)	ANKS6 (S757C)	Single nucleotide variant (missense variant)	not provided +1 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 2201472	NM_173551.5(ANKS6):c.1301T>C (p.Leu434Pro)	ANKS6 (L434P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2195270	NM_173551.5(ANKS6):c.35TGC[4] (p.Leu14_Arg15insLeu)	ANKS6	Microsatellite (inframe_insertion)	Nephronophthisis 16	GUncertain significance
Select item 2194752	NM_173551.5(ANKS6):c.1219+18_1219+19del	ANKS6	Deletion (intron variant)	Nephronophthisis 16	GLikely benign
Select item 2188105	NM_173551.5(ANKS6):c.1152C>T (p.Ala384=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 2183268	NM_173551.5(ANKS6):c.639G>A (p.Trp213Ter)	ANKS6 (W213*)	Single nucleotide variant (nonsense)	Nephronophthisis 16	GPathogenic
Select item 2176088	NM_173551.5(ANKS6):c.1940G>A (p.Ser647Asn)	ANKS6, LOC124310614 (S647N)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2174014	NM_173551.5(ANKS6):c.1822-18C>T	ANKS6, LOC124310614	Single nucleotide variant (intron variant)	Nephronophthisis 16	GLikely benign
Select item 2164691	NM_173551.5(ANKS6):c.71C>T (p.Thr24Met)	ANKS6 (T24M)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2163785	NM_173551.5(ANKS6):c.2057G>A (p.Arg686Gln)	ANKS6 (R686Q)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2161951	NM_173551.5(ANKS6):c.1347C>T (p.Pro449=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 2160075	NM_173551.5(ANKS6):c.750C>G (p.Asn250Lys)	ANKS6 (N250K)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2156262	NM_173551.5(ANKS6):c.1508C>G (p.Pro503Arg)	ANKS6 (P503R)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2142892	NM_173551.5(ANKS6):c.1071C>T (p.Ser357=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 2127290	NM_173551.5(ANKS6):c.2331A>C (p.Glu777Asp)	ANKS6 (E777D)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2122101	NM_173551.5(ANKS6):c.2440del (p.Glu814fs)	ANKS6 (E814fs)	Deletion (frameshift variant)	Nephronophthisis 16	GUncertain significance
Select item 2108575	NM_173551.5(ANKS6):c.684G>A (p.Pro228=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 2103070	NM_173551.5(ANKS6):c.2157C>A (p.Ser719Arg)	ANKS6 (S719R)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2102094	NM_173551.5(ANKS6):c.636G>T (p.Glu212Asp)	ANKS6 (E212D)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2097729	NM_173551.5(ANKS6):c.568T>G (p.Leu190Val)	ANKS6 (L190V)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2096612	NM_173551.5(ANKS6):c.994C>G (p.Leu332Val)	ANKS6 (L332V)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2095382	NM_173551.5(ANKS6):c.279G>A (p.Leu93=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 2092783	NM_173551.5(ANKS6):c.2395-14C>T	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16	GLikely benign
Select item 2084452	NM_173551.5(ANKS6):c.1733G>A (p.Arg578His)	ANKS6 (R578H)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2083809	NM_173551.5(ANKS6):c.696C>T (p.Ala232=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 2079690	NM_173551.5(ANKS6):c.983C>T (p.Thr328Met)	ANKS6 (T328M)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2078989	NM_173551.5(ANKS6):c.1429C>T (p.Arg477Cys)	ANKS6 (R477C)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2076390	NM_173551.5(ANKS6):c.733G>T (p.Val245Leu)	ANKS6 (V245L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2076117	NM_173551.5(ANKS6):c.1746G>A (p.Lys582=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 2075640	NM_173551.5(ANKS6):c.1827C>T (p.Pro609=)	ANKS6, LOC124310614	Single nucleotide variant (synonymous variant)	ANKS6-related condition +1 more	GLikely benign
Select item 2073602	NM_173551.5(ANKS6):c.1918G>A (p.Gly640Ser)	LOC124310614, ANKS6 (G640S)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2068235	NM_173551.5(ANKS6):c.2324A>T (p.Glu775Val)	ANKS6 (E775V)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2067351	NM_173551.5(ANKS6):c.2578A>G (p.Ser860Gly)	ANKS6 (S860G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2066586	NM_173551.5(ANKS6):c.1690C>G (p.Pro564Ala)	ANKS6 (P564A)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2064827	NM_173551.5(ANKS6):c.1220-15C>G	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16	GLikely benign
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 2062532	NM_173551.5(ANKS6):c.1348G>A (p.Asp450Asn)	ANKS6 (D450N)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2059677	NM_173551.5(ANKS6):c.360-11C>T	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16	GLikely benign
Select item 2059006	NM_173551.5(ANKS6):c.1536C>T (p.Leu512=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 2056440	NM_173551.5(ANKS6):c.516T>C (p.His172=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 2053176	NM_173551.5(ANKS6):c.1820C>T (p.Thr607Ile)	ANKS6 (T607I)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2051242	NM_173551.5(ANKS6):c.2327-4G>A	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16	GLikely benign
Select item 2049583	NM_173551.5(ANKS6):c.1400G>A (p.Arg467Gln)	ANKS6 (R467Q)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2043083	NM_173551.5(ANKS6):c.382C>A (p.His128Asn)	ANKS6 (H128N)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2043082	NM_173551.5(ANKS6):c.1112+16A>G	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16	GLikely benign
Select item 2042717	NM_173551.5(ANKS6):c.607C>T (p.His203Tyr)	ANKS6 (H203Y)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2041574	NM_173551.5(ANKS6):c.2214G>A (p.Thr738=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 2040219	NM_173551.5(ANKS6):c.2142+10T>C	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16	GLikely benign
Select item 2039013	NM_173551.5(ANKS6):c.359+10C>A	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16	GLikely benign
Select item 2038251	NM_173551.5(ANKS6):c.1425G>T (p.Leu475=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 2029697	NM_173551.5(ANKS6):c.1300del (p.Leu434fs)	ANKS6 (L434fs)	Deletion (frameshift variant)	Nephronophthisis 16	GPathogenic
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 2009362	NM_173551.5(ANKS6):c.2390A>G (p.Gln797Arg)	ANKS6 (Q797R)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2007734	NM_173551.5(ANKS6):c.2325G>A (p.Glu775=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GUncertain significance
Select item 1999426	NM_173551.5(ANKS6):c.2534A>C (p.Gln845Pro)	ANKS6 (Q845P)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
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 1977904	NM_173551.5(ANKS6):c.1701T>C (p.Phe567=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 1975247	NM_173551.5(ANKS6):c.1112+11G>A	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16	GBenign
Select item 1972257	NM_173551.5(ANKS6):c.2273A>T (p.His758Leu)	ANKS6 (H758L)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance

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