ClinVar for Gene (Select 25861) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 887

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3061951	NM_015404.4(WHRN):c.2140C>T (p.Gln714Ter)	WHRN (Q331* +2 more)	Single nucleotide variant (nonsense)	Usher syndrome type 2D	GLikely pathogenic
Select item 3036682	NM_015404.4(WHRN):c.1323C>G (p.Thr441=)	WHRN	Single nucleotide variant (synonymous variant)	WHRN-related condition	GLikely benign
Select item 3012515	NM_015404.4(WHRN):c.2237-17C>T	WHRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011472	NM_015404.4(WHRN):c.2394G>A (p.Arg798=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006168	NM_015404.4(WHRN):c.1977C>T (p.Pro659=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002943	NM_015404.4(WHRN):c.2262G>A (p.Ser754=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001585	NM_015404.4(WHRN):c.2451C>T (p.Val817=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994220	NM_015404.4(WHRN):c.1566C>T (p.Tyr522=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992984	NM_015404.4(WHRN):c.747C>G (p.Gly249=)	WHRN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2986742	NM_015404.4(WHRN):c.348G>T (p.Leu116=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983722	NM_015404.4(WHRN):c.1629C>T (p.Asn543=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981511	NM_015404.4(WHRN):c.2118_2121del (p.Ser707fs)	WHRN (S324fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2979382	NM_015404.4(WHRN):c.1627-13C>T	WHRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972850	NM_015404.4(WHRN):c.1527A>G (p.Pro509=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971028	NM_015404.4(WHRN):c.73_88del (p.Gly25fs)	WHRN (G25fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2968506	NM_015404.4(WHRN):c.1096C>T (p.Arg366Cys)	WHRN (R366C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2880004	NM_015404.4(WHRN):c.837+7G>A	WHRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878018	NM_015404.4(WHRN):c.717G>A (p.Pro239=)	WHRN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2868936	NM_015404.4(WHRN):c.1203+8A>G	WHRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866466	NM_015404.4(WHRN):c.2542-8C>G	WHRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866236	NM_015404.4(WHRN):c.654G>A (p.Val218=)	WHRN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2865453	NM_015404.4(WHRN):c.1699-17G>C	WHRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854683	NM_015404.4(WHRN):c.1432G>A (p.Glu478Lys)	WHRN (E478K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2836382	NM_015404.4(WHRN):c.2397C>T (p.Pro799=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818585	NM_015404.4(WHRN):c.979C>T (p.Leu327=)	WHRN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2814757	NM_015404.4(WHRN):c.258C>T (p.Val86=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805420	NM_015404.4(WHRN):c.552C>T (p.Val184=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803433	NM_015404.4(WHRN):c.1203+13C>G	WHRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795134	NM_015404.4(WHRN):c.619-18G>T	WHRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792381	NM_015404.4(WHRN):c.774G>A (p.Leu258=)	WHRN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2791604	NM_015404.4(WHRN):c.1519C>T (p.Gln507Ter)	WHRN (Q124* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2791479	NM_015404.4(WHRN):c.2237-16del	WHRN	Deletion (intron variant)	not provided	GLikely benign
Select item 2782566	NM_015404.4(WHRN):c.444C>T (p.Ala148=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782242	NM_015404.4(WHRN):c.2220G>T (p.Ala740=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780113	NM_015404.4(WHRN):c.837+10G>A	WHRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2775854	NM_015404.4(WHRN):c.2223G>C (p.Leu741=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2757900	NM_015404.4(WHRN):c.838-11C>T	WHRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2757519	NM_015404.4(WHRN):c.141C>A (p.Thr47=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747432	NM_015404.4(WHRN):c.1928A>T (p.Gln643Leu)	WHRN (Q643L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2745850	NM_015404.4(WHRN):c.327C>A (p.Tyr109Ter)	WHRN (Y109*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2745416	NM_015404.4(WHRN):c.1329C>T (p.Ala443=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2738144	NM_015404.4(WHRN):c.228C>T (p.Arg76=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722416	NM_015404.4(WHRN):c.2613G>A (p.Thr871=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2717609	NM_015404.4(WHRN):c.315C>T (p.Leu105=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2581947	NM_015404.4(WHRN):c.2351C>G (p.Ser784Cys)	WHRN (S401C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581852	NM_015404.4(WHRN):c.1203+2T>C	WHRN	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2581794	NM_015404.4(WHRN):c.683A>G (p.Tyr228Cys)	WHRN (Y228C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2578149	NM_015404.4(WHRN):c.1577G>C (p.Gly526Ala)	WHRN (G143A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575779	NM_015404.4(WHRN):c.1619C>T (p.Ser540Leu)	WHRN (S157L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507255	NM_015404.4(WHRN):c.1627-10C>A	WHRN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2503092	NM_015404.4(WHRN):c.1817del (p.Asp606fs)	WHRN (D223fs +2 more)	Deletion (frameshift variant)	Usher syndrome	GPathogenic
Select item 2500690	NM_015404.4(WHRN):c.35C>A (p.Ser12Ter)	WHRN (S12*)	Single nucleotide variant (nonsense)	Usher syndrome type 2D	GPathogenic
Select item 2445925	NM_015404.4(WHRN):c.375del (p.Ala126fs)	WHRN (A126fs)	Deletion (frameshift variant)	Usher syndrome	GLikely pathogenic
Select item 2417671	NM_015404.4(WHRN):c.348G>C (p.Leu116=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2416506	NM_015404.4(WHRN):c.257T>C (p.Val86Ala)	WHRN (V86A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413765	NM_015404.4(WHRN):c.1371G>A (p.Glu457=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2405681	NM_015404.4(WHRN):c.326A>C (p.Tyr109Ser)	WHRN (Y109S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247878	NM_015404.4(WHRN):c.23T>A (p.Leu8Gln)	WHRN (L8Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241372	NM_015404.4(WHRN):c.1777G>A (p.Asp593Asn)	WHRN (D210N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2196965	NM_015404.4(WHRN):c.1523C>T (p.Pro508Leu)	WHRN (P508L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2165620	NM_015404.4(WHRN):c.1177G>C (p.Asp393His)	WHRN (D393H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2160234	NM_015404.4(WHRN):c.2220G>A (p.Ala740=)	WHRN	Single nucleotide variant (synonymous variant)	WHRN-related condition +1 more	GLikely benign
Select item 2156708	NM_015404.4(WHRN):c.2102G>A (p.Gly701Asp)	WHRN (G350D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140132	NM_015404.4(WHRN):c.2491G>A (p.Glu831Lys)	WHRN (E831K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2134631	NM_015404.4(WHRN):c.2234G>C (p.Arg745Pro)	WHRN (R362P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2134162	NM_015404.4(WHRN):c.154G>T (p.Glu52Ter)	WHRN (E52*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2128416	NM_015404.4(WHRN):c.2429T>C (p.Leu810Pro)	WHRN (L809P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2127368	NM_015404.4(WHRN):c.1381A>G (p.Met461Val)	WHRN (M461V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2122115	NM_015404.4(WHRN):c.366C>A (p.Tyr122Ter)	WHRN (Y122*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2121488	NM_015404.4(WHRN):c.851T>C (p.Leu284Pro)	WHRN (L284P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2119552	NM_015404.4(WHRN):c.886G>T (p.Gly296Trp)	WHRN (G296W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2118540	NM_015404.4(WHRN):c.301T>G (p.Ser101Ala)	WHRN (S101A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114721	NM_015404.4(WHRN):c.1466A>G (p.Glu489Gly)	WHRN (E106G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2112182	NM_015404.4(WHRN):c.759C>T (p.Pro253=)	WHRN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2111587	NM_015404.4(WHRN):c.2037C>T (p.Pro679=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2111339	NM_015404.4(WHRN):c.70G>A (p.Ala24Thr)	WHRN (A24T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2109637	NM_015404.4(WHRN):c.1203+20G>A	WHRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2108604	NM_015404.4(WHRN):c.1417-3C>T	WHRN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2106628	NM_015404.4(WHRN):c.1398G>A (p.Leu466=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2106173	NM_015404.4(WHRN):c.351C>T (p.Pro117=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2105062	NM_015404.4(WHRN):c.2314G>A (p.Glu772Lys)	WHRN (E421K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104318	NM_015404.4(WHRN):c.1167-18G>A	WHRN (M32I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2103240	NM_015404.4(WHRN):c.1777G>T (p.Asp593Tyr)	WHRN (D242Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101433	NM_015404.4(WHRN):c.1563del (p.Tyr522fs)	WHRN (Y139fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2100472	NM_015404.4(WHRN):c.46G>A (p.Gly16Ser)	WHRN (G16S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098657	NM_015404.4(WHRN):c.6C>T (p.Asn2=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2096877	NM_015404.4(WHRN):c.2137G>C (p.Asp713His)	WHRN (D362H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094025	NM_015404.4(WHRN):c.2677C>G (p.Arg893Gly)	WHRN (R510G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092877	NM_015404.4(WHRN):c.1922C>G (p.Ser641Cys)	WHRN (S258C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092862	NM_015404.4(WHRN):c.1565A>G (p.Tyr522Cys)	WHRN (Y171C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092836	NM_015404.4(WHRN):c.3G>C (p.Met1Ile)	WHRN (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2092734	NM_015404.4(WHRN):c.499T>G (p.Tyr167Asp)	WHRN (Y167D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092717	NM_015404.4(WHRN):c.1675A>C (p.Asn559His)	WHRN (N559H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091531	NM_015404.4(WHRN):c.1975C>T (p.Pro659Ser)	WHRN (P659S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091413	NM_015404.4(WHRN):c.2653G>C (p.Ala885Pro)	WHRN (A885P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2086438	NM_015404.4(WHRN):c.2304T>C (p.Ala768=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085802	NM_015404.4(WHRN):c.721G>C (p.Gly241Arg)	WHRN (G241R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2069065	NM_015404.4(WHRN):c.1958C>G (p.Ser653Cys)	WHRN (S270C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068496	NM_015404.4(WHRN):c.586C>G (p.Leu196Val)	WHRN (L196V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 9