WHRN[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 889

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +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)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	PALM2AKAP2, PAPPA +377 more	Copy number loss	See cases	GPathogenic
Select item 152172	GRCh38/hg38 9q32(chr9:114193726-114677465)x3	AKNA, ATP6V1G1 +32 more	Copy number gain	See cases	GBenign
Select item 58481	GRCh38/hg38 9q32(chr9:114246876-114637081)x3	AKNA, ATP6V1G1 +29 more	Copy number gain	See cases	GUncertain significance
Select item 149899	GRCh38/hg38 9q32(chr9:114246889-114637174)x3	AKNA, ATP6V1G1 +29 more	Copy number gain	See cases	GLikely benign
Select item 58482	GRCh38/hg38 9q32(chr9:114270395-114677524)x3	AKNA, ATP6V1G1 +31 more	Copy number gain	See cases	GUncertain significance
Select item 364670	NM_015404.4(WHRN):c.*633T>C	WHRN	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 915111	NM_015404.4(WHRN):c.*613A>G	WHRN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 31 +1 more	GUncertain significance
Select item 912413	NM_015404.4(WHRN):c.*583C>T	WHRN	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 364671	NM_015404.4(WHRN):c.*554C>T	WHRN	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 912414	NM_015404.4(WHRN):c.*495T>C	WHRN	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 912415	NM_015404.4(WHRN):c.*438T>G	WHRN	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 2D +1 more	GBenign
Select item 364672	NM_015404.4(WHRN):c.*357C>G	WHRN	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 913530	NM_015404.4(WHRN):c.*339C>A	WHRN	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 364673	NM_015404.4(WHRN):c.*325dup	WHRN	Duplication (3 prime UTR variant)	Hearing loss, autosomal recessive +1 more	GUncertain significance
Select item 364674	NM_015404.4(WHRN):c.*188A>T	WHRN	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 364675	NM_015404.4(WHRN):c.*187A>G	WHRN	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 913909	NM_015404.4(WHRN):c.*175C>T	WHRN	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 364676	NM_015404.4(WHRN):c.*156G>A	WHRN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 31 +2 more	GUncertain significance
Select item 364677	NM_015404.4(WHRN):c.*149A>G	WHRN	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 913910	NM_015404.4(WHRN):c.*126C>A	WHRN	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 976567	NM_015404.4(WHRN):c.*51C>T	WHRN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 31 +2 more	GConflicting classifications of pathogenicity
Select item 364678	NM_015404.4(WHRN):c.*37C>G	WHRN	Single nucleotide variant (3 prime UTR variant)	Usher syndrome type 2D +2 more	GConflicting classifications of pathogenicity
Select item 976568	NM_015404.4(WHRN):c.*29T>G	WHRN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 31 +1 more	GUncertain significance
Select item 179975	NM_015404.4(WHRN):c.2722T>C (p.Ter908Gln)	WHRN	Single nucleotide variant (stop lost)	not specified +3 more	GUncertain significance
Select item 1723548	NM_015404.4(WHRN):c.2701A>C (p.Thr901Pro)	WHRN (T518P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 976569	NM_015404.4(WHRN):c.2690A>C (p.Asp897Ala)	WHRN (D514A +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1024321	NM_015404.4(WHRN):c.2686A>G (p.Ile896Val)	WHRN (I513V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 958523	NM_015404.4(WHRN):c.2678G>A (p.Arg893His)	WHRN (R892H +3 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 1022464	NM_015404.4(WHRN):c.2677C>T (p.Arg893Cys)	WHRN (R510C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388097	NM_015404.4(WHRN):c.2673G>C (p.Lys891Asn)	WHRN (K891N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 912450	NM_015404.4(WHRN):c.2665A>G (p.Lys889Glu)	WHRN (K889E +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1375663	NM_015404.4(WHRN):c.2656G>A (p.Glu886Lys)	WHRN (E885K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 680230	NM_015404.4(WHRN):c.2655C>T (p.Ala885=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 912451	NM_015404.4(WHRN):c.2653G>A (p.Ala885Thr)	WHRN (A884T +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 31 +2 more	GUncertain significance
Select item 1648195	NM_015404.4(WHRN):c.2652C>T (p.Ile884=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 667361	NM_015404.4(WHRN):c.2645G>A (p.Arg882His)	WHRN (R531H +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 194094	NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser)	WHRN (R882S +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 180119	NM_015404.4(WHRN):c.2644C>T (p.Arg882Cys)	WHRN (R882C +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1011840	NM_015404.4(WHRN):c.2641G>A (p.Ala881Thr)	WHRN (A498T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1545408	NM_015404.4(WHRN):c.2640C>T (p.Ala880=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 912452	NM_015404.4(WHRN):c.2633G>A (p.Arg878Gln)	WHRN (R878Q +3 more)	Single nucleotide variant (missense variant)	Usher syndrome type 2D +2 more	GUncertain significance
Select item 1139901	NM_015404.4(WHRN):c.2631C>T (p.His877=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 505112	NM_015404.4(WHRN):c.2621G>C (p.Gly874Ala)	WHRN (G874A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1001176	NM_015404.4(WHRN):c.2620G>A (p.Gly874Ser)	WHRN (G491S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 857137	NM_015404.4(WHRN):c.2618G>A (p.Arg873Gln)	WHRN (R490Q +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 77520	NM_015404.4(WHRN):c.2617C>T (p.Arg873Trp)	WHRN (R873W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1155631	NM_015404.4(WHRN):c.2616T>G (p.Leu872=)	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 2008680	NM_015404.4(WHRN):c.2613G>T (p.Thr871=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 913568	NM_015404.4(WHRN):c.2612C>T (p.Thr871Met)	WHRN (T870M +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 31 +1 more	GUncertain significance
Select item 1206779	NM_015404.4(WHRN):c.2611A>G (p.Thr871Ala)	WHRN (T488A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 45676	NM_015404.4(WHRN):c.2586C>A (p.His862Gln)	WHRN (H862Q +3 more)	Single nucleotide variant (missense variant)	Usher syndrome type 2D +3 more	GBenign/Likely benign
Select item 2057708	NM_015404.4(WHRN):c.2582G>A (p.Gly861Asp)	WHRN (G510D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 964065	NM_015404.4(WHRN):c.2571G>T (p.Gln857His)	WHRN (Q856H +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 31 +3 more	GUncertain significance
Select item 179365	NM_015404.4(WHRN):c.2569C>T (p.Gln857Ter)	WHRN (Q857* +3 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 1038011	NM_015404.4(WHRN):c.2567G>T (p.Gly856Val)	WHRN (G505V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1391572	NM_015404.4(WHRN):c.2562C>A (p.Asn854Lys)	WHRN (N471K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1611610	NM_015404.4(WHRN):c.2556T>C (p.Ala852=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 959976	NM_015404.4(WHRN):c.2554G>A (p.Ala852Thr)	WHRN (A469T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1034567	NM_015404.4(WHRN):c.2548G>A (p.Gly850Ser)	WHRN (G467S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1408224	NM_015404.4(WHRN):c.2547C>T (p.Gly849=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1343671	NM_015404.4(WHRN):c.2542-1G>A	WHRN	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 2866466	NM_015404.4(WHRN):c.2542-8C>G	WHRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1958529	NM_015404.4(WHRN):c.2542-15G>T	WHRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194454	NM_015404.4(WHRN):c.2541+134C>T	WHRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1942565	NM_015404.4(WHRN):c.2541+17C>T	WHRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1896437	NM_015404.4(WHRN):c.2541+16C>T	WHRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1913928	NM_015404.4(WHRN):c.2541+15G>T	WHRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1564132	NM_015404.4(WHRN):c.2541+13G>C	WHRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1156469	NM_015404.4(WHRN):c.2541+13G>A	WHRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1475519	NM_015404.4(WHRN):c.2541+3A>G	WHRN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1044647	NM_015404.4(WHRN):c.2540A>G (p.Gln847Arg)	WHRN (Q496R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1525728	NM_015404.4(WHRN):c.2514_2515delinsTT (p.Gln838_Pro839delinsHisSer)	WHRN	Indel (missense variant)	not provided	GUncertain significance
Select item 228563	NM_015404.4(WHRN):c.2510G>A (p.Arg837His)	WHRN (R837H +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 913569	NM_015404.4(WHRN):c.2509C>T (p.Arg837Cys)	WHRN (R837C +3 more)	Single nucleotide variant (missense variant)	Usher syndrome type 2D +1 more	GUncertain significance
Select item 1155612	NM_015404.4(WHRN):c.2499C>T (p.Gly833=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1004539	NM_015404.4(WHRN):c.2492A>G (p.Glu831Gly)	WHRN (E448G +3 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 1083925	NM_015404.4(WHRN):c.2490C>T (p.Ile830=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1364871	NM_015404.4(WHRN):c.2485G>A (p.Ala829Thr)	WHRN (A828T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1063436	NM_015404.4(WHRN):c.2485G>T (p.Ala829Ser)	WHRN (A446S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 511701	NM_015404.4(WHRN):c.2484C>T (p.Ile828=)	WHRN	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1914142	NM_015404.4(WHRN):c.2476C>T (p.Leu826=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1214527	NM_015404.4(WHRN):c.2474C>G (p.Thr825Ser)	WHRN (T442S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1100387	NM_015404.4(WHRN):c.2469G>A (p.Ala823=)	WHRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 939147	NM_015404.4(WHRN):c.2461A>C (p.Lys821Gln)	WHRN (K470Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 9