ClinVar for MedGen (Select 482696) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 489

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246405	NC_000005.9:g.(?_140059894)_(140070834_?)del	HARS1	Deletion	Usher syndrome type 3B	GUncertain significance
Select item 3246404	NC_000005.9:g.(?_140056219)_(140059488_?)del	HARS1	Deletion	Usher syndrome type 3B	GUncertain significance
Select item 3018111	NM_002109.6(HARS1):c.1311+8A>C	HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 3017024	NM_002109.6(HARS1):c.1406A>C (p.Gln469Pro)	HARS1 (Q429P +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 3006730	NM_002109.6(HARS1):c.523-20G>A	HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 3001457	NM_002109.6(HARS1):c.697A>G (p.Thr233Ala)	HARS1 (T193A +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2983466	NM_002109.6(HARS1):c.1048G>T (p.Glu350Ter)	HARS1 (E276* +6 more)	Single nucleotide variant (nonsense)	Usher syndrome type 3B	GUncertain significance
Select item 2982120	NM_002109.6(HARS1):c.261C>G (p.His87Gln)	HARS1 (H87Q +1 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B	GUncertain significance
Select item 2981618	NM_002109.6(HARS1):c.714A>G (p.Val238=)	HARS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 3B	GLikely benign
Select item 2978893	NM_002109.6(HARS1):c.729+10C>T	HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 2977963	NM_002109.6(HARS1):c.824-10G>C	HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GUncertain significance
Select item 2970883	NM_002109.6(HARS1):c.505C>T (p.Arg169Trp)	HARS1 (R129W +2 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B	GUncertain significance
Select item 2966874	NM_002109.6(HARS1):c.729+15A>T	HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 2959610	NM_002109.6(HARS1):c.996T>G (p.Thr332=)	HARS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 3B	GLikely benign
Select item 2920289	NM_002109.6(HARS1):c.228G>A (p.Val76=)	HARS1	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 3B	GLikely benign
Select item 2919359	NM_002109.6(HARS1):c.300+138G>C	HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 2906239	NM_002109.6(HARS1):c.137G>A (p.Gly46Asp)	HARS1 (G46D +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2898340	NM_002109.6(HARS1):c.300+6G>A	HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GUncertain significance
Select item 2885282	NM_002109.6(HARS1):c.660G>A (p.Met220Ile)	HARS1 (M146I +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2879564	NM_002109.6(HARS1):c.730-2A>G	HARS1	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 3B	GUncertain significance
Select item 2875368	NM_002109.6(HARS1):c.1008T>C (p.Tyr336=)	HARS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 3B	GLikely benign
Select item 2868210	NM_002109.6(HARS1):c.693C>G (p.Phe231Leu)	HARS1 (F157L +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2867704	NM_002109.6(HARS1):c.143A>G (p.Asp48Gly)	HARS1 (D48G +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2867137	NM_002109.6(HARS1):c.392T>G (p.Leu131Arg)	HARS1 (L102R +2 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B	GUncertain significance
Select item 2864081	NM_002109.6(HARS1):c.1061_1062del (p.Val354fs)	HARS1 (V314fs +6 more)	Microsatellite (frameshift variant)	Usher syndrome type 3B	GUncertain significance
Select item 2856680	NM_002109.6(HARS1):c.1311+10G>A	HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 2852645	NM_002109.6(HARS1):c.1486G>C (p.Glu496Gln)	HARS1 (E476Q +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2849733	NM_002109.6(HARS1):c.1029C>T (p.Thr343=)	HARS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 3B	GLikely benign
Select item 2846616	NM_002109.6(HARS1):c.815A>G (p.Gln272Arg)	HARS1 (Q252R +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2839114	NM_002109.6(HARS1):c.888G>T (p.Leu296Phe)	HARS1 (L222F +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2832686	NM_002109.6(HARS1):c.241A>T (p.Ile81Phe)	HARS1 (I81F +1 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B	GUncertain significance
Select item 2831722	NM_002109.6(HARS1):c.898G>A (p.Gly300Arg)	HARS1 (G226R +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2826049	NM_002109.6(HARS1):c.440T>C (p.Ile147Thr)	HARS1 (I107T +2 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B	GUncertain significance
Select item 2825760	NM_002109.6(HARS1):c.829G>T (p.Val277Leu)	HARS1 (V257L +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2822220	NM_002109.6(HARS1):c.523-13C>A	HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 2817817	NM_002109.6(HARS1):c.148A>C (p.Ser50Arg)	HARS1 (S21R +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2813786	NM_002109.6(HARS1):c.891G>A (p.Glu297=)	HARS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 3B	GLikely benign
Select item 2811598	NM_002109.6(HARS1):c.1495A>T (p.Lys499Ter)	HARS1 (K385* +6 more)	Single nucleotide variant (nonsense)	Usher syndrome type 3B	GUncertain significance
Select item 2811507	NM_002109.6(HARS1):c.181-16T>C	HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 2811219	NM_002109.6(HARS1):c.1034C>A (p.Ala345Asp)	HARS1 (A325D +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2811043	NM_002109.6(HARS1):c.1459G>A (p.Val487Met)	HARS1 (V373M +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2810152	NM_002109.6(HARS1):c.637G>T (p.Asp213Tyr)	HARS1 (D99Y +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2810145	NM_002109.6(HARS1):c.1505_1506dup (p.Gly503fs)	HARS1 (G463fs +6 more)	Duplication (frameshift variant)	Usher syndrome type 3B	GUncertain significance
Select item 2809436	NM_002109.6(HARS1):c.1090G>C (p.Asp364His)	HARS1 (D344H +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2803453	NM_002109.6(HARS1):c.28C>G (p.Leu10Val)	HARS1, LOC129994848 (L10V)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B	GUncertain significance
Select item 2801895	NM_002109.6(HARS1):c.391C>T (p.Leu131Phe)	HARS1 (L102F +2 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B	GUncertain significance
Select item 2799764	NM_002109.6(HARS1):c.810T>C (p.Tyr270=)	HARS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 3B	GLikely benign
Select item 2798615	NM_002109.6(HARS1):c.552C>T (p.Pro184=)	HARS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 3B	GLikely benign
Select item 2783476	NM_002109.6(HARS1):c.993C>T (p.Tyr331=)	HARS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 3B	GLikely benign
Select item 2783311	NM_002109.6(HARS1):c.241A>G (p.Ile81Val)	HARS1 (I52V +1 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B	GUncertain significance
Select item 2778709	NM_002109.6(HARS1):c.42G>A (p.Gln14=)	HARS1, LOC129994848	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 3B	GLikely benign
Select item 2768554	NM_002109.6(HARS1):c.1479C>G (p.Asp493Glu)	HARS1 (D473E +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2768013	NM_002109.6(HARS1):c.4del (p.Ala2fs)	HARS1, LOC129994848 (A2fs)	Deletion (frameshift variant +2 more)	Usher syndrome type 3B	GUncertain significance
Select item 2758341	NM_002109.6(HARS1):c.86A>T (p.Glu29Val)	HARS1, LOC129994848 (E29V)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B	GUncertain significance
Select item 2754462	NM_002109.6(HARS1):c.804G>A (p.Gly268=)	HARS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 3B	GLikely benign
Select item 2753314	NM_002109.6(HARS1):c.1225A>G (p.Thr409Ala)	HARS1 (T335A +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2750598	NM_002109.6(HARS1):c.630+8C>T	HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 2750424	NM_002109.6(HARS1):c.300+4del	HARS1	Deletion (intron variant)	Usher syndrome type 3B	GUncertain significance
Select item 2745389	NM_002109.6(HARS1):c.489G>A (p.Met163Ile)	HARS1 (M134I +2 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B	GUncertain significance
Select item 2740398	NM_002109.6(HARS1):c.108G>A (p.Ala36=)	HARS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 3B	GLikely benign
Select item 2740396	NM_002109.6(HARS1):c.145G>A (p.Glu49Lys)	HARS1 (E20K +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2738162	NM_002109.6(HARS1):c.636C>T (p.Asn212=)	HARS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 3B	GLikely benign
Select item 2729278	NM_002109.6(HARS1):c.467A>G (p.Tyr156Cys)	HARS1 (Y116C +2 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B	GUncertain significance
Select item 2726972	NM_002109.6(HARS1):c.730-16G>T	HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 2720626	NM_002109.6(HARS1):c.1143G>A (p.Gly381=)	HARS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 3B	GLikely benign
Select item 2718109	NM_002109.6(HARS1):c.1195-21_1195-18del	HARS1	Deletion (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 2714668	NM_002109.6(HARS1):c.189A>G (p.Arg63=)	HARS1	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 3B	GLikely benign
Select item 2712655	NM_002109.6(HARS1):c.589G>C (p.Glu197Gln)	HARS1 (E157Q +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2697500	NM_002109.6(HARS1):c.1040C>T (p.Ala347Val)	HARS1 (A287V +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2694976	NM_002109.6(HARS1):c.1256A>G (p.Lys419Arg)	HARS1 (K305R +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2613187	NM_002109.6(HARS1):c.1328A>G (p.Lys443Arg)	HARS1 (K329R +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B +1 more	GUncertain significance
Select item 2492904	NM_002109.6(HARS1):c.643C>T (p.Arg215Cys)	HARS1 (R101C +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B +1 more	GUncertain significance
Select item 2417098	NM_002109.6(HARS1):c.480C>T (p.Asn160=)	HARS1	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 3B	GLikely benign
Select item 2230829	NM_002109.6(HARS1):c.280A>G (p.Thr94Ala)	HARS1 (T65A +1 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B +1 more	GUncertain significance
Select item 2199515	NM_002109.6(HARS1):c.1356A>G (p.Leu452=)	HARS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 3B	GLikely benign
Select item 2199050	NM_002109.6(HARS1):c.454A>G (p.Ile152Val)	HARS1 (I112V +2 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B	GUncertain significance
Select item 2198867	NM_002109.6(HARS1):c.753T>C (p.Asn251=)	HARS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 3B	GLikely benign
Select item 2196534	NM_002109.6(HARS1):c.217C>T (p.Arg73Cys)	HARS1 (R73C +1 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B	GUncertain significance
Select item 2192486	NM_002109.6(HARS1):c.170A>G (p.Lys57Arg)	HARS1 (K28R +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2190642	NM_002109.6(HARS1):c.1436G>A (p.Arg479His)	HARS1 (R439H +6 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2188539	NM_002109.6(HARS1):c.616G>A (p.Asp206Asn)	HARS1 (D146N +6 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2188495	NM_002109.6(HARS1):c.1459-17_1459-15del	HARS1	Microsatellite (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 2186188	NM_002109.6(HARS1):c.553A>G (p.Met185Val)	HARS1 (M165V +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2184598	NM_002109.6(HARS1):c.261C>T (p.His87=)	HARS1	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 3B	GLikely benign
Select item 2183325	NM_002109.6(HARS1):c.180+20G>C	HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 2174986	NM_002109.6(HARS1):c.90+18G>A	LOC129994848, HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 2169233	NM_002109.6(HARS1):c.24G>A (p.Glu8=)	HARS1, LOC129994848	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 3B	GLikely benign
Select item 2167087	NM_002109.6(HARS1):c.801T>G (p.Ile267Met)	HARS1 (I153M +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2166635	NM_002109.6(HARS1):c.1311+19A>G	HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 2164501	NM_002109.6(HARS1):c.396+9C>T	HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 2159676	NM_002109.6(HARS1):c.729+16C>T	HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 2159387	NM_002109.6(HARS1):c.1271G>A (p.Arg424Lys)	HARS1 (R404K +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance
Select item 2143725	NM_002109.6(HARS1):c.630+6A>G	HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GUncertain significance
Select item 2142730	NM_002109.6(HARS1):c.423G>T (p.Met141Ile)	HARS1 (M141I +2 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3B	GUncertain significance
Select item 2142407	NM_002109.6(HARS1):c.952-6C>T	HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 2139465	NM_002109.6(HARS1):c.522+18G>A	HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 2133169	NM_002109.6(HARS1):c.630+7G>A	HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GLikely benign
Select item 2133114	NM_002109.6(HARS1):c.730-20A>G	HARS1	Single nucleotide variant (intron variant)	Usher syndrome type 3B	GUncertain significance
Select item 2132513	NM_002109.6(HARS1):c.443_444dup (p.Arg149fs)	HARS1 (R149fs +2 more)	Duplication (frameshift variant +1 more)	Usher syndrome type 3B	GUncertain significance
Select item 2131530	NM_002109.6(HARS1):c.862A>G (p.Lys288Glu)	HARS1 (K228E +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B	GUncertain significance

<< First< Prev

Page of 5