ClinVar for Gene (Select 286676) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 252

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075921	NM_001199799.2(ILDR1):c.912del (p.Asp305fs)	ILDR1 (D216fs +2 more)	Deletion (frameshift variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 3075920	NM_001199799.2(ILDR1):c.377del (p.Asn126fs)	ILDR1 (N126fs)	Deletion (frameshift variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 3036563	NM_001199799.2(ILDR1):c.1434C>G (p.Ser478=)	ILDR1	Single nucleotide variant (synonymous variant)	ILDR1-related condition	GLikely benign
Select item 3020133	NM_001199799.2(ILDR1):c.646+16C>T	ILDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001747	NM_001199799.2(ILDR1):c.279del (p.Asn93fs)	ILDR1 (N93fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2997314	NM_001199799.2(ILDR1):c.432C>G (p.Tyr144Ter)	ILDR1 (Y144*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2983820	NM_001199799.2(ILDR1):c.880C>A (p.Arg294=)	ILDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969343	NM_001199799.2(ILDR1):c.765G>A (p.Pro255=)	ILDR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2893098	NM_001199799.2(ILDR1):c.12C>G (p.Pro4=)	ILDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892403	NM_001199799.2(ILDR1):c.516C>T (p.Ile172=)	ILDR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2811703	NM_001199799.2(ILDR1):c.230-18T>C	ILDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804744	NM_001199799.2(ILDR1):c.646+17A>G	ILDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2727428	NM_001199799.2(ILDR1):c.783G>A (p.Leu261=)	ILDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722516	NM_001199799.2(ILDR1):c.486G>A (p.Lys162=)	ILDR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2719146	NM_001199799.2(ILDR1):c.426G>A (p.Val142=)	ILDR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2689866	NM_001199799.2(ILDR1):c.1180del (p.Glu394fs)	ILDR1 (E305fs +2 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 42	GPathogenic
Select item 2664329	NM_001199799.2(ILDR1):c.779-6A>G	ILDR1	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 42	GUncertain significance
Select item 2662822	NM_001199799.2(ILDR1):c.604C>T (p.Arg202Cys)	ILDR1 (R202C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2614243	NM_001199799.2(ILDR1):c.20C>A (p.Pro7His)	ILDR1 (P7H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605686	NM_001199799.2(ILDR1):c.998C>T (p.Pro333Leu)	ILDR1 (P289L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597328	NM_001199799.2(ILDR1):c.1235C>T (p.Pro412Leu)	ILDR1 (P323L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591131	NM_001199799.2(ILDR1):c.1613C>G (p.Ser538Cys)	ILDR1 (S494C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2581798	NM_001199799.2(ILDR1):c.326A>G (p.Asn109Ser)	ILDR1 (N109S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579957	NM_001199799.2(ILDR1):c.232T>G (p.Tyr78Asp)	ILDR1 (Y78D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2575708	NM_001199799.2(ILDR1):c.791C>T (p.Pro264Leu)	ILDR1 (P175L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2542256	NM_001199799.2(ILDR1):c.1240C>T (p.His414Tyr)	ILDR1 (H414Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2502108	NM_001199799.2(ILDR1):c.929T>C (p.Phe310Ser)	ILDR1 (F221S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498006	NM_001199799.2(ILDR1):c.946A>T (p.Met316Leu)	ILDR1 (M227L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2471643	NM_001199799.2(ILDR1):c.1477C>T (p.Arg493Trp)	ILDR1 (R404W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2428378	NM_001199799.2(ILDR1):c.667A>G (p.Met223Val)	ILDR1 (M134V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2423002	NC_000003.11:g.(?_121489192)_(125313644_?)dup	ADCY5, CASR +32 more	Duplication	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 2417640	NM_001199799.2(ILDR1):c.102T>C (p.Tyr34=)	ILDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2403709	NM_001199799.2(ILDR1):c.457A>G (p.Thr153Ala)	ILDR1 (T153A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380233	NM_001199799.2(ILDR1):c.1399A>G (p.Ser467Gly)	ILDR1 (S378G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355105	NM_001199799.2(ILDR1):c.1087G>C (p.Asp363His)	ILDR1 (D274H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342041	NM_001199799.2(ILDR1):c.973G>A (p.Val325Met)	ILDR1 (V281M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309971	NM_001199799.2(ILDR1):c.802C>T (p.Pro268Ser)	ILDR1 (P268S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289263	NM_001199799.2(ILDR1):c.1306C>T (p.His436Tyr)	ILDR1 (H392Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288912	NM_001199799.2(ILDR1):c.776G>A (p.Arg259Gln)	ILDR1 (R170Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2288567	NM_001199799.2(ILDR1):c.359G>A (p.Arg120His)	ILDR1 (R120H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271127	NM_001199799.2(ILDR1):c.299G>A (p.Arg100His)	ILDR1 (R100H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262208	NM_001199799.2(ILDR1):c.1176A>C (p.Arg392Ser)	ILDR1 (R303S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255138	NM_001199799.2(ILDR1):c.817A>G (p.Thr273Ala)	ILDR1 (T184A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251777	NM_001199799.2(ILDR1):c.279C>G (p.Asn93Lys)	ILDR1 (N93K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223597	NM_001199799.2(ILDR1):c.916C>T (p.Leu306Phe)	ILDR1 (L306F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217704	NM_001199799.2(ILDR1):c.818C>T (p.Thr273Ile)	ILDR1 (T273I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207795	NM_001199799.2(ILDR1):c.1169T>C (p.Leu390Ser)	ILDR1 (L301S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207754	NM_001199799.2(ILDR1):c.314G>A (p.Arg105Gln)	ILDR1 (R105Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203411	NM_001199799.2(ILDR1):c.1358G>A (p.Arg453Gln)	ILDR1 (R409Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2195601	NM_001199799.2(ILDR1):c.317G>A (p.Arg106Gln)	ILDR1 (R106Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189508	NM_001199799.2(ILDR1):c.1600-10T>C	ILDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2180844	NM_001199799.2(ILDR1):c.1211G>A (p.Arg404His)	ILDR1 (R315H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172949	NM_001199799.2(ILDR1):c.1491C>T (p.Arg497=)	ILDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2158038	NM_001199799.2(ILDR1):c.1504C>G (p.Pro502Ala)	ILDR1 (P458A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2157127	NM_001199799.2(ILDR1):c.181C>A (p.Arg61Ser)	ILDR1 (R61S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2122474	NM_001199799.2(ILDR1):c.250C>G (p.Leu84Val)	ILDR1 (L84V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2105060	NM_001199799.2(ILDR1):c.1253G>A (p.Arg418Lys)	ILDR1 (R329K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2084722	NM_001199799.2(ILDR1):c.166G>A (p.Val56Met)	ILDR1 (V56M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071202	NM_001199799.2(ILDR1):c.881G>A (p.Arg294Gln)	ILDR1 (R294Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058528	NM_001199799.2(ILDR1):c.662G>A (p.Arg221His)	ILDR1 (R221H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2014331	NM_001199799.2(ILDR1):c.7T>C (p.Trp3Arg)	ILDR1 (W3R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993491	NM_001199799.2(ILDR1):c.54A>C (p.Pro18=)	ILDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1987807	NM_001199799.2(ILDR1):c.98G>A (p.Arg33His)	ILDR1 (R33H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1983668	NM_001199799.2(ILDR1):c.979C>T (p.Arg327Cys)	ILDR1 (R283C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937746	NM_001199799.2(ILDR1):c.1120C>G (p.Pro374Ala)	ILDR1 (P285A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1936923	NM_001199799.2(ILDR1):c.967G>A (p.Glu323Lys)	ILDR1 (E234K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934860	NM_001199799.2(ILDR1):c.741G>A (p.Gln247=)	ILDR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1934501	NM_001199799.2(ILDR1):c.1186G>A (p.Asp396Asn)	ILDR1 (D352N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917992	NM_001199799.2(ILDR1):c.1148G>A (p.Arg383Gln)	ILDR1 (R339Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1907964	NM_001199799.2(ILDR1):c.229+14C>A	ILDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907774	NM_001199799.2(ILDR1):c.379+14A>C	ILDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1901581	NM_001199799.2(ILDR1):c.805C>T (p.Gln269Ter)	ILDR1 (Q269* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1898104	NM_001199799.2(ILDR1):c.1210C>A (p.Arg404Ser)	ILDR1 (R360S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809404	GRCh37/hg19 3q13.33(chr3:121661753-121767890)x1	ILDR1, SLC15A2	Copy number loss	not provided	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1803673	NM_001199799.2(ILDR1):c.1487G>A (p.Arg496His)	ILDR1 (R407H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708922	NM_001199799.2(ILDR1):c.421G>C (p.Gly141Arg)	ILDR1 (G141R)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1705301	NM_001199799.2(ILDR1):c.206C>A (p.Pro69His)	ILDR1 (P69H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 42	GLikely pathogenic
Select item 1702639	NM_001199799.2(ILDR1):c.526C>G (p.Leu176Val)	ILDR1 (L176V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1700797	NM_001199799.2(ILDR1):c.656G>A (p.Arg219His)	ILDR1 (R130H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1696978	NM_001199799.2(ILDR1):c.33G>A (p.Leu11=)	ILDR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1691657	NM_001199799.2(ILDR1):c.1301C>T (p.Pro434Leu)	ILDR1 (P345L +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 42 +1 more	GUncertain significance
Select item 1648371	NM_001199799.2(ILDR1):c.59-14G>C	ILDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636882	NM_001199799.2(ILDR1):c.1600-17_1600-16dup	ILDR1	Duplication (intron variant)	not provided	GLikely benign
Select item 1624884	NM_001199799.2(ILDR1):c.229+17C>A	ILDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1602943	NM_001199799.2(ILDR1):c.647-12_647-10del	ILDR1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1586396	NM_001199799.2(ILDR1):c.285C>T (p.Asn95=)	ILDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1570561	NM_001199799.2(ILDR1):c.58+17T>C	ILDR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1559126	NM_001199799.2(ILDR1):c.1527G>A (p.Pro509=)	ILDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1542007	NM_001199799.2(ILDR1):c.647-7C>T	ILDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1521220	NM_001199799.2(ILDR1):c.1516G>A (p.Glu506Lys)	ILDR1 (E506K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1514697	NM_001199799.2(ILDR1):c.826A>G (p.Thr276Ala)	ILDR1 (T187A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507163	NM_001199799.2(ILDR1):c.883A>G (p.Asn295Asp)	ILDR1 (N251D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1498520	NM_001199799.2(ILDR1):c.709C>G (p.Pro237Ala)	ILDR1 (P148A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1462701	NM_001199799.2(ILDR1):c.106A>C (p.Thr36Pro)	ILDR1 (T36P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	KALRN, KBTBD12 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1427709	NM_001199799.2(ILDR1):c.1087G>A (p.Asp363Asn)	ILDR1 (D274N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1408728	NM_001199799.2(ILDR1):c.209T>C (p.Ile70Thr)	ILDR1 (I70T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1405577	NM_001199799.2(ILDR1):c.1507C>T (p.His503Tyr)	ILDR1 (H414Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 3