ClinVar for Gene (Select 125336) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075840	NM_001384474.1(LOXHD1):c.5096A>C (p.Asp1699Ala)	LOXHD1 (D1699A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3066253	NM_001384474.1(LOXHD1):c.6732del (p.Gly2245fs)	LOXHD1 (G2183fs +2 more)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 3063545	GRCh37/hg19 18q12.2-21.1(chr18:33793283-46823898)x1	ARK2C, ARK2N +29 more	Copy number loss	not specified	GPathogenic
Select item 3059712	NM_001384474.1(LOXHD1):c.6182+4G>A	LOXHD1	Single nucleotide variant (intron variant)	LOXHD1-related condition	GLikely benign
Select item 3043342	NM_001384474.1(LOXHD1):c.5247C>T (p.Ala1749=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	LOXHD1-related condition	GLikely benign
Select item 3025541	NM_001384474.1(LOXHD1):c.6763T>C (p.Trp2255Arg)	LOXHD1 (W2193R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3025044	NM_001384474.1(LOXHD1):c.2686G>A (p.Val896Met)	LOXHD1 (V896M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024461	NM_001384474.1(LOXHD1):c.3999C>A (p.Cys1333Ter)	LOXHD1 (C126* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 3023861	NM_001384474.1(LOXHD1):c.2047+13G>A	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023479	NM_001384474.1(LOXHD1):c.5878+11C>A	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023158	NM_001384474.1(LOXHD1):c.2097C>T (p.Ser699=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021964	NM_001384474.1(LOXHD1):c.5272-11T>A	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019665	NM_001384474.1(LOXHD1):c.5085+20C>A	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019617	NM_001384474.1(LOXHD1):c.883+16G>C	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019278	NM_001384474.1(LOXHD1):c.249C>T (p.Ser83=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018738	NM_001384474.1(LOXHD1):c.5518-20G>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018530	NM_001384474.1(LOXHD1):c.1810-20T>C	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018414	NM_001384474.1(LOXHD1):c.6183-16C>G	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017774	NM_001384474.1(LOXHD1):c.1134+13C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016654	NM_001384474.1(LOXHD1):c.246-1G>T	LOXHD1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3016205	NM_001384474.1(LOXHD1):c.5272-12C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015919	NM_001384474.1(LOXHD1):c.3678T>C (p.Ile1226=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015652	NM_001384474.1(LOXHD1):c.1962A>T (p.Pro654=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015470	NM_001384474.1(LOXHD1):c.4376-20C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015159	NM_001384474.1(LOXHD1):c.6182+11G>A	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014261	NM_001384474.1(LOXHD1):c.5692+15C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013389	NM_001384474.1(LOXHD1):c.3519del (p.Lys1173fs)	LOXHD1 (K1173fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3012868	NM_001384474.1(LOXHD1):c.3914-15G>C	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012720	NM_001384474.1(LOXHD1):c.5692+12G>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012325	NM_001384474.1(LOXHD1):c.909C>T (p.Phe303=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012082	NM_001384474.1(LOXHD1):c.2637G>T (p.Arg879=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012005	NM_001384474.1(LOXHD1):c.245+12C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011363	NM_001384474.1(LOXHD1):c.5742G>A (p.Gly1914=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010953	NM_001384474.1(LOXHD1):c.4605G>A (p.Lys1535=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010949	NM_001384474.1(LOXHD1):c.4960del (p.Glu1654fs)	LOXHD1 (E1654fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3010680	NM_001384474.1(LOXHD1):c.2245-14C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008114	NM_001384474.1(LOXHD1):c.1135-12C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008105	NM_001384474.1(LOXHD1):c.507C>T (p.Pro169=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007991	NM_001384474.1(LOXHD1):c.2599-19T>C	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007320	NM_001384474.1(LOXHD1):c.5399+17C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007243	NM_001384474.1(LOXHD1):c.6049+16C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007106	NM_001384474.1(LOXHD1):c.2977G>T (p.Glu993Ter)	LOXHD1 (E993*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3006575	NM_001384474.1(LOXHD1):c.1654+12C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006350	NM_001384474.1(LOXHD1):c.1654+16C>A	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005563	NM_001384474.1(LOXHD1):c.5562C>T (p.Tyr1854=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005255	NM_001384474.1(LOXHD1):c.1809+15T>C	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004224	NM_001384474.1(LOXHD1):c.4704G>A (p.Lys1568=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002600	NM_001384474.1(LOXHD1):c.5565T>C (p.Tyr1855=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000288	NM_001384474.1(LOXHD1):c.1770C>T (p.Tyr590=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000145	NM_001384474.1(LOXHD1):c.3620-17G>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999348	NM_001384474.1(LOXHD1):c.3061+12G>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999058	NM_001384474.1(LOXHD1):c.2048-14C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999057	NM_001384474.1(LOXHD1):c.3061+16G>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998517	NM_001384474.1(LOXHD1):c.4876+15G>A	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997033	NM_001384474.1(LOXHD1):c.3351-11C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996921	NM_001384474.1(LOXHD1):c.6341+13C>A	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996437	NM_001384474.1(LOXHD1):c.780G>T (p.Gly260=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994253	NM_001384474.1(LOXHD1):c.4053G>A (p.Lys1351=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994193	NM_001384474.1(LOXHD1):c.611-20T>C	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992718	NM_001384474.1(LOXHD1):c.1270+13G>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992277	NM_001384474.1(LOXHD1):c.354T>C (p.Asn118=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989874	NM_001384474.1(LOXHD1):c.1810-11C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989101	NM_001384474.1(LOXHD1):c.1380C>T (p.Leu460=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989065	NM_001384474.1(LOXHD1):c.1083C>A (p.Val361=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987908	NM_001384474.1(LOXHD1):c.5904C>T (p.Ser1968=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986840	NM_001384474.1(LOXHD1):c.1270+15C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986811	NM_001384474.1(LOXHD1):c.4741-13C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985975	NM_001384474.1(LOXHD1):c.5693-4C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984158	NM_001384474.1(LOXHD1):c.5879-16G>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983809	NM_001384474.1(LOXHD1):c.5878+13C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983771	NM_001384474.1(LOXHD1):c.6342-18C>G	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983724	NM_001384474.1(LOXHD1):c.5004A>C (p.Arg1668=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983485	NM_001384474.1(LOXHD1):c.3913+17G>A	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983474	NM_001384474.1(LOXHD1):c.3748+10C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982828	NM_001384474.1(LOXHD1):c.6049+18T>C	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982392	NM_001384474.1(LOXHD1):c.512-2A>T	LOXHD1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2982391	NM_001384474.1(LOXHD1):c.631G>T (p.Glu211Ter)	LOXHD1 (E211*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2982390	NM_001384474.1(LOXHD1):c.6054C>A (p.Tyr2018Ter)	LOXHD1 (Y257* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2982063	NM_001384474.1(LOXHD1):c.3351-20T>C	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981790	NM_001384474.1(LOXHD1):c.1518+13A>G	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980619	NM_001384474.1(LOXHD1):c.4740+13G>A	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980437	NM_001384474.1(LOXHD1):c.130+8G>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980431	NM_001384474.1(LOXHD1):c.4531-12T>C	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980397	NM_001384474.1(LOXHD1):c.2599-18G>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979514	NM_001384474.1(LOXHD1):c.1476G>A (p.Trp492Ter)	LOXHD1 (W492*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2979019	NM_001384474.1(LOXHD1):c.245+18C>G	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979017	NM_001384474.1(LOXHD1):c.512-16C>G	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978358	NM_001384474.1(LOXHD1):c.2245-20C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977864	NM_001384474.1(LOXHD1):c.512-12C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977217	NM_001384474.1(LOXHD1):c.6050-18C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977061	NM_001384474.1(LOXHD1):c.1655-20T>A	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975913	NM_001384474.1(LOXHD1):c.6049+19T>G	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973471	NM_001384474.1(LOXHD1):c.326+15C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973205	NM_001384474.1(LOXHD1):c.6183-12T>C	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973203	NM_001384474.1(LOXHD1):c.3748+9T>C	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972886	NM_001384474.1(LOXHD1):c.246-1G>A	LOXHD1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2971948	NM_001384474.1(LOXHD1):c.3402G>A (p.Gln1134=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2971757	NM_001384474.1(LOXHD1):c.2438-7C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971492	NM_001384474.1(LOXHD1):c.4239C>A (p.Cys1413Ter)	LOXHD1 (C206* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2970209	NM_001384474.1(LOXHD1):c.6050-17C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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