203286[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 1190217	NM_173551.5(ANKS6):c.*262A>T	ANKS6	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1279257	NM_173551.5(ANKS6):c.*237G>C	ANKS6	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1328662	NM_173551.5(ANKS6):c.*199C>T	ANKS6	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1250349	NM_173551.5(ANKS6):c.*192A>G	ANKS6	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1224900	NM_173551.5(ANKS6):c.*40C>T	ANKS6	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 262836	NM_173551.5(ANKS6):c.*17C>A	ANKS6	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1622754	NM_173551.5(ANKS6):c.2615G>A (p.Ter872=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 262850	NM_173551.5(ANKS6):c.2613G>A (p.Ala871=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16 +1 more	GBenign/Likely benign
Select item 1393759	NM_173551.5(ANKS6):c.2612C>T (p.Ala871Val)	ANKS6 (A871V)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 390055	NM_173551.5(ANKS6):c.2593C>T (p.Pro865Ser)	ANKS6 (P865S)	Single nucleotide variant (missense variant)	Nephronophthisis 16 +1 more	GConflicting classifications of pathogenicity
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 474451	NM_173551.5(ANKS6):c.2564T>C (p.Phe855Ser)	ANKS6 (F855S)	Single nucleotide variant (missense variant)	Nephronophthisis 16 +2 more	GConflicting classifications of pathogenicity
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 3127029	NM_173551.5(ANKS6):c.2516G>A (p.Arg839His)	ANKS6 (R839H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 64359	NM_173551.5(ANKS6):c.2512-2A>C	ANKS6	Single nucleotide variant (splice acceptor variant)	Nephronophthisis 16	GPathogenic
Select item 1196478	NM_173551.5(ANKS6):c.2511+252C>T	ANKS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1695470	NM_173551.5(ANKS6):c.2511+160del	ANKS6	Deletion (intron variant)	not provided	GLikely benign
Select item 3127028	NM_173551.5(ANKS6):c.2511+6G>A	ANKS6	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1382569	NM_173551.5(ANKS6):c.2511+3A>G	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16	GUncertain significance
Select item 640676	NM_173551.5(ANKS6):c.2503G>A (p.Ala835Thr)	ANKS6 (A835T)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 728305	NM_173551.5(ANKS6):c.2502C>T (p.Asn834=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 1488545	NM_173551.5(ANKS6):c.2498T>G (p.Leu833Arg)	ANKS6 (L833R)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
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 591568	NM_173551.5(ANKS6):c.2473C>T (p.Gln825Ter)	ANKS6 (Q825*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2122101	NM_173551.5(ANKS6):c.2440del (p.Glu814fs)	ANKS6 (E814fs)	Deletion (frameshift variant)	Nephronophthisis 16	GUncertain significance
Select item 748988	NM_173551.5(ANKS6):c.2433C>T (p.Asp811=)	ANKS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1175179	NM_173551.5(ANKS6):c.2420dup (p.Thr808fs)	ANKS6 (T808fs)	Duplication (frameshift variant)	Nephronophthisis 16	GLikely pathogenic
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 2741418	NM_173551.5(ANKS6):c.2395-12C>A	ANKS6	Single nucleotide variant (intron 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 1278700	NM_173551.5(ANKS6):c.2394+247C>G	ANKS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2724488	NM_173551.5(ANKS6):c.2394+15T>C	ANKS6	Single nucleotide variant (intron 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 1710088	NM_173551.5(ANKS6):c.2394+1G>A	ANKS6	Single nucleotide variant (splice donor variant)	Nephronophthisis 16	GPathogenic
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 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 64358	NM_173551.5(ANKS6):c.2370_2372del (p.Tyr790_Gln791delinsTer)	ANKS6	Deletion (nonsense)	Nephronophthisis 16	GPathogenic
Select item 3037117	NM_173551.5(ANKS6):c.2361T>A (p.Leu787=)	ANKS6	Single nucleotide variant (synonymous variant)	ANKS6-related condition	GLikely benign
Select item 1090071	NM_173551.5(ANKS6):c.2343C>T (p.Ile781=)	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 474449	NM_173551.5(ANKS6):c.2327A>G (p.Asp776Gly)	ANKS6 (D776G)	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 1601229	NM_173551.5(ANKS6):c.2327-19dup	ANKS6	Duplication (intron variant)	Nephronophthisis 16	GBenign/Likely benign
Select item 1191653	NM_173551.5(ANKS6):c.2327-19del	ANKS6	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1189981	NM_173551.5(ANKS6):c.2327-105T>C	ANKS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1301171	NM_173551.5(ANKS6):c.2327-189G>A	ANKS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225207	NM_173551.5(ANKS6):c.2327-254CT[2]	ANKS6	Microsatellite (intron variant)	not provided	GBenign
Select item 1250485	NM_173551.5(ANKS6):c.2326+260G>A	ANKS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707149	NM_173551.5(ANKS6):c.2326+131T>C	ANKS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281148	NM_173551.5(ANKS6):c.2326+25C>A	ANKS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2007734	NM_173551.5(ANKS6):c.2325G>A (p.Glu775=)	ANKS6	Single nucleotide variant (synonymous 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 1944824	NM_173551.5(ANKS6):c.2321A>G (p.Asp774Gly)	ANKS6 (D774G)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 474448	NM_173551.5(ANKS6):c.2310C>T (p.Gly770=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 1956497	NM_173551.5(ANKS6):c.2289C>T (p.Ser763=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 1352949	NM_173551.5(ANKS6):c.2287A>G (p.Ser763Gly)	ANKS6 (S763G)	Single nucleotide variant (missense variant)	Nephronophthisis 16	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 1972257	NM_173551.5(ANKS6):c.2273A>T (p.His758Leu)	ANKS6 (H758L)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 262849	NM_173551.5(ANKS6):c.2271C>T (p.Ser757=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16 +1 more	GLikely benign
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 638870	NM_173551.5(ANKS6):c.2267C>T (p.Ser756Leu)	ANKS6 (S756L)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 1175034	NM_173551.5(ANKS6):c.2265G>A (p.Ser755=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 743806	NM_173551.5(ANKS6):c.2265G>C (p.Ser755=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
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 582762	NM_173551.5(ANKS6):c.2233G>A (p.Gly745Arg)	ANKS6 (G745R)	Single nucleotide variant (missense variant)	Nephronophthisis 16	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 2713262	NM_173551.5(ANKS6):c.2220C>T (p.Ser740=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16 +1 more	GLikely benign
Select item 2041574	NM_173551.5(ANKS6):c.2214G>A (p.Thr738=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GLikely benign
Select item 262848	NM_173551.5(ANKS6):c.2203C>G (p.Pro735Ala)	ANKS6 (P735A)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
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 2828015	NM_173551.5(ANKS6):c.2177C>T (p.Thr726Ile)	ANKS6 (T726I)	Single nucleotide variant (missense variant)	Nephronophthisis 16	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 2103070	NM_173551.5(ANKS6):c.2157C>A (p.Ser719Arg)	ANKS6 (S719R)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance
Select item 2864118	NM_173551.5(ANKS6):c.2143-10T>C	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16	GLikely benign
Select item 1622976	NM_173551.5(ANKS6):c.2143-15T>C	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16	GLikely benign
Select item 1216897	NM_173551.5(ANKS6):c.2143-37G>T	ANKS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178668	NM_173551.5(ANKS6):c.2143-235T>C	ANKS6	Single nucleotide variant (intron variant)	not provided	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 1606122	NM_173551.5(ANKS6):c.2142+14G>T	ANKS6	Single nucleotide variant (intron 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 2040219	NM_173551.5(ANKS6):c.2142+10T>C	ANKS6	Single nucleotide variant (intron variant)	Nephronophthisis 16	GLikely benign
Select item 745792	NM_173551.5(ANKS6):c.2142+8T>C	ANKS6	Single nucleotide variant (intron variant)	not provided	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 2715297	NM_173551.5(ANKS6):c.2127C>T (p.Ser709=)	ANKS6	Single nucleotide variant (synonymous variant)	Nephronophthisis 16	GBenign
Select item 566534	NM_173551.5(ANKS6):c.2113C>T (p.Pro705Ser)	ANKS6 (P705S)	Single nucleotide variant (missense variant)	Nephronophthisis 16	GUncertain significance

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