15842[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 146335	GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3	ADAMTS6, AK6 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 57512	GRCh38/hg38 5q12.3-13.2(chr5:64932763-69495504)x1	ADAMTS6, AK6 +115 more	Copy number loss	See cases	GPathogenic
Select item 146452	GRCh38/hg38 5q12.3(chr5:65211728-66746761)x3	ADAMTS6, CENPK +41 more	Copy number gain	See cases	GUncertain significance
Select item 151651	GRCh38/hg38 5q12.3(chr5:65413763-66430722)x1	ADAMTS6, CENPK +28 more	Copy number loss	See cases	GLikely pathogenic
Select item 154729	GRCh38/hg38 5q12.3-13.2(chr5:65976124-71317474)x3	AK6, CCDC125 +101 more	Copy number gain	See cases	GUncertain significance
Select item 2689030	NM_001253697.2(ERBIN):c.14dup (p.Ser6fs)	ERBIN (S6fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1461891	NM_001253697.2(ERBIN):c.24T>C (p.Phe8=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986821	NM_001253697.2(ERBIN):c.25G>T (p.Val9Leu)	ERBIN (V9L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2130475	NM_001253697.2(ERBIN):c.27G>A (p.Val9=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1499632	NM_001253697.2(ERBIN):c.29G>A (p.Arg10Gln)	ERBIN (R10Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940567	NM_001253697.2(ERBIN):c.30G>C (p.Arg10=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1902119	NM_001253697.2(ERBIN):c.31T>C (p.Leu11=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858063	NM_001253697.2(ERBIN):c.35T>C (p.Val12Ala)	ERBIN (V12A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1907847	NM_001253697.2(ERBIN):c.37C>T (p.Pro13Ser)	ERBIN (P13S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2373779	NM_001253697.2(ERBIN):c.43C>T (p.Arg15Cys)	ERBIN (R15C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2719943	NM_001253697.2(ERBIN):c.44G>A (p.Arg15His)	ERBIN (R15H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1149303	NM_001253697.2(ERBIN):c.51A>G (p.Leu17=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929481	NM_001253697.2(ERBIN):c.53G>A (p.Arg18Gln)	ERBIN (R18Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1592055	NM_001253697.2(ERBIN):c.54A>T (p.Arg18=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778767	NM_001253697.2(ERBIN):c.55G>C (p.Gly19Arg)	ERBIN (G19R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699768	NM_001253697.2(ERBIN):c.58G>A (p.Glu20Lys)	ERBIN (E20K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473559	NM_001253697.2(ERBIN):c.64G>A (p.Glu22Lys)	ERBIN (E22K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699594	NM_001253697.2(ERBIN):c.66G>C (p.Glu22Asp)	ERBIN (E22D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1534545	NM_001253697.2(ERBIN):c.114G>A (p.Pro38=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1418702	NM_001253697.2(ERBIN):c.122T>C (p.Ile41Thr)	ERBIN (I41T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1933587	NM_001253697.2(ERBIN):c.126T>C (p.Phe42=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002257	NM_001253697.2(ERBIN):c.131T>C (p.Phe44Ser)	ERBIN (F44S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017812	NM_001253697.2(ERBIN):c.155A>G (p.Tyr52Cys)	ERBIN (Y52C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2000719	NM_001253697.2(ERBIN):c.155A>C (p.Tyr52Ser)	ERBIN (Y52S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965915	NM_001253697.2(ERBIN):c.160G>A (p.Asp54Asn)	ERBIN (D54N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116091	NM_001253697.2(ERBIN):c.160G>C (p.Asp54His)	ERBIN (D54H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713834	NM_001253697.2(ERBIN):c.180G>T (p.Glu60Asp)	ERBIN (E60D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3057578	NM_001253697.2(ERBIN):c.186A>G (p.Pro62=)	ERBIN	Single nucleotide variant (synonymous variant)	ERBIN-related disorder	GLikely benign
Select item 1902694	NM_001253697.2(ERBIN):c.189+12C>G	ERBIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2688529	NM_001253697.2(ERBIN):c.189+56A>G	ERBIN	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1164168	NM_001253697.2(ERBIN):c.190-18C>A	ERBIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1667964	NM_001253697.2(ERBIN):c.190-12T>C	ERBIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1486878	NM_001253697.2(ERBIN):c.190-7T>G	ERBIN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2124247	NM_001253697.2(ERBIN):c.190-3T>C	ERBIN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1371422	NM_001253697.2(ERBIN):c.192A>G (p.Gln64=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1508267	NM_001253697.2(ERBIN):c.200A>C (p.Asn67Thr)	ERBIN (N67T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111238	NM_001253697.2(ERBIN):c.206A>G (p.Gln69Arg)	ERBIN (Q69R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1521145	NM_001253697.2(ERBIN):c.213A>T (p.Leu71Phe)	ERBIN (L71F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956422	NM_001253697.2(ERBIN):c.216C>G (p.His72Gln)	ERBIN (H72Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164092	NM_001253697.2(ERBIN):c.248C>T (p.Thr83Met)	ERBIN (T83M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2741123	NM_001253697.2(ERBIN):c.255A>G (p.Pro85=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1998083	NM_001253697.2(ERBIN):c.257C>G (p.Ala86Gly)	ERBIN (A86G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1500603	NM_001253697.2(ERBIN):c.257C>T (p.Ala86Val)	ERBIN (A86V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2771103	NM_001253697.2(ERBIN):c.260C>T (p.Ser87Phe)	ERBIN (S87F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1160746	NM_001253697.2(ERBIN):c.262A>G (p.Ile88Val)	ERBIN (I88V)	Single nucleotide variant (missense variant)	ERBIN-related disorder +1 more	GLikely benign
Select item 2726158	NM_001253697.2(ERBIN):c.268A>G (p.Asn90Asp)	ERBIN (N90D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957276	NM_001253697.2(ERBIN):c.284G>T (p.Arg95Met)	ERBIN (R95M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981301	NM_001253697.2(ERBIN):c.286G>A (p.Glu96Lys)	ERBIN (E96K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000868	NM_001253697.2(ERBIN):c.288A>G (p.Glu96=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1435783	NM_001253697.2(ERBIN):c.292G>A (p.Asp98Asn)	ERBIN (D98N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2741151	NM_001253697.2(ERBIN):c.303G>C (p.Lys101Asn)	ERBIN (K101N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019505	NM_001253697.2(ERBIN):c.305A>C (p.Asn102Thr)	ERBIN (N102T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1626989	NM_001253697.2(ERBIN):c.307+10T>C	ERBIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2703732	NM_001253697.2(ERBIN):c.307+13T>C	ERBIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910009	NM_001253697.2(ERBIN):c.307+14T>A	ERBIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1493537	NM_001253697.2(ERBIN):c.307+19A>G	ERBIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989448	NM_001253697.2(ERBIN):c.308-17C>A	ERBIN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1933797	NM_001253697.2(ERBIN):c.308-17C>T	ERBIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1641925	NM_001253697.2(ERBIN):c.308-16G>A	ERBIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1945641	NM_001253697.2(ERBIN):c.308-13G>T	ERBIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871317	NM_001253697.2(ERBIN):c.308-5del	ERBIN	Deletion (intron variant)	not provided	GBenign
Select item 2817970	NM_001253697.2(ERBIN):c.308-3T>C	ERBIN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1617399	NM_001253697.2(ERBIN):c.321T>C (p.Phe107=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1999908	NM_001253697.2(ERBIN):c.330T>C (p.Asn110=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1551156	NM_001253697.2(ERBIN):c.339T>C (p.Asn113=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778867	NM_001253697.2(ERBIN):c.355A>G (p.Ile119Val)	ERBIN (I119V)	Single nucleotide variant (missense variant)	ERBIN-related disorder +1 more	GBenign/Likely benign
Select item 1472630	NM_001253697.2(ERBIN):c.360G>A (p.Val120=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2793078	NM_001253697.2(ERBIN):c.379A>G (p.Ile127Val)	ERBIN (I127V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2032971	NM_001253697.2(ERBIN):c.386+11A>T	ERBIN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2688436	NM_001253697.2(ERBIN):c.386+100C>G	ERBIN	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1551305	NM_001253697.2(ERBIN):c.387-5T>C	ERBIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2007478	NM_001253697.2(ERBIN):c.390C>G (p.Leu130=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999411	NM_001253697.2(ERBIN):c.407A>T (p.Gln136Leu)	ERBIN (Q136L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2163791	NM_001253697.2(ERBIN):c.429G>A (p.Leu143=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2760408	NM_001253697.2(ERBIN):c.440A>G (p.Asp147Gly)	ERBIN (D147G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1425829	NM_001253697.2(ERBIN):c.441T>A (p.Asp147Glu)	ERBIN (D147E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874598	NM_001253697.2(ERBIN):c.468T>A (p.Asn156Lys)	ERBIN (N156K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2739688	NM_001253697.2(ERBIN):c.471T>G (p.Phe157Leu)	ERBIN (F157L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870253	NM_001253697.2(ERBIN):c.476+5A>G	ERBIN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1665565	NM_001253697.2(ERBIN):c.477-10dup	ERBIN	Duplication (intron variant)	not provided	GBenign
Select item 1910810	NM_001253697.2(ERBIN):c.477-19T>C	ERBIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168518	NM_001253697.2(ERBIN):c.477-10del	ERBIN	Deletion (intron variant)	not provided	GBenign
Select item 2047485	NM_001253697.2(ERBIN):c.477-11T>C	ERBIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825577	NM_001253697.2(ERBIN):c.482C>G (p.Thr161Ser)	ERBIN (T161S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014912	NM_001253697.2(ERBIN):c.493A>G (p.Ile165Val)	ERBIN (I165V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783059	NM_001253697.2(ERBIN):c.496T>C (p.Leu166=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1431238	NM_001253697.2(ERBIN):c.501G>T (p.Glu167Asp)	ERBIN (E167D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1609343	NM_001253697.2(ERBIN):c.513C>T (p.Asn171=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1007529	NM_001253697.2(ERBIN):c.515A>G (p.Gln172Arg)	ERBIN (Q172R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1571333	NM_001253697.2(ERBIN):c.528G>A (p.Leu176=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1659961	NM_001253697.2(ERBIN):c.533+11G>A	ERBIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2133624	NM_001253697.2(ERBIN):c.533+20T>C	ERBIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1573803	NM_001253697.2(ERBIN):c.534-19A>G	ERBIN	Single nucleotide variant (intron variant)	not provided	GLikely benign

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