253827[geneid] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150076	GRCh38/hg38 12q14.1-14.3(chr12:60907151-66568077)x1	AVPR1A, C12orf56 +144 more	Copy number loss	See cases	GPathogenic
Select item 1222713	NC_000012.12:g.65278326G>A	MSRB3	Single nucleotide variant	not provided	GBenign
Select item 1199664	NC_000012.12:g.65278567C>T	MSRB3	Single nucleotide variant	not provided	GLikely benign
Select item 1699605	NM_001031679.3(MSRB3):c.-147T>C	MSRB3 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 1324742	NM_001031679.3(MSRB3):c.-147T>G	MSRB3 (M1R)	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive nonsyndromic hearing loss 74	GLikely pathogenic
Select item 226730	NM_001031679.3(MSRB3):c.-139C>A	MSRB3	Single nucleotide variant (5 prime UTR variant +1 more)	MSRB3-related condition +2 more	GBenign
Select item 1210517	NM_001031679.3(MSRB3):c.-122C>T	MSRB3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 432258	NM_001031679.3(MSRB3):c.-118del	MSRB3 (L11fs)	Deletion (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1910577	NM_001031679.3(MSRB3):c.-118C>G	MSRB3 (L11V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1712073	NM_001031679.3(MSRB3):c.-118C>A	MSRB3 (L11I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 667049	NM_001031679.3(MSRB3):c.-118C>T	MSRB3 (L11F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 929972	NM_001031679.3(MSRB3):c.-110C>T	MSRB3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 2533382	NM_001031679.3(MSRB3):c.-96G>A	MSRB3 (C18Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 227548	NM_001031679.3(MSRB3):c.-95C>T	MSRB3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 2272985	NM_001031679.3(MSRB3):c.-76G>T	MSRB3 (A25S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1467829	NM_001031679.3(MSRB3):c.-76G>A	MSRB3 (A25T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2320537	NM_001031679.3(MSRB3):c.-75C>T	MSRB3 (A25V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 228858	NM_001031679.3(MSRB3):c.-67G>C	MSRB3 (G28R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1359685	NM_001031679.3(MSRB3):c.-53C>T	MSRB3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2892801	NM_001031679.3(MSRB3):c.-52+8C>G	MSRB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1301588	NM_001031679.3(MSRB3):c.-51-1502G>A	MSRB3	Single nucleotide variant (splice donor variant +1 more)	Autosomal recessive nonsyndromic hearing loss 74	GUncertain significance
Select item 1183782	NM_001031679.3(MSRB3):c.-51-341C>T	MSRB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1536207	NM_001031679.3(MSRB3):c.7G>A (p.Ala3Thr)	MSRB3 (A3T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 498282	NM_001031679.3(MSRB3):c.14A>G (p.Asn5Ser)	MSRB3 (N5S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1606531	NM_001031679.3(MSRB3):c.15C>A (p.Asn5Lys)	MSRB3 (N5K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 31056	NM_001031679.3(MSRB3):c.55C>T (p.Arg19Ter)	MSRB3 (R19*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 74	GPathogenic
Select item 286298	NM_001031679.3(MSRB3):c.76+7G>T	MSRB3	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1190729	NM_001031679.3(MSRB3):c.77-311del	MSRB3	Deletion (intron variant)	not provided	GLikely benign
Select item 1324741	NM_001031679.3(MSRB3):c.77-2A>G	MSRB3	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1254573	NM_001031679.3(MSRB3):c.80C>G (p.Ser27Trp)	MSRB3 (S27W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 548702	NM_001031679.3(MSRB3):c.80C>T (p.Ser27Leu)	MSRB3 (S27L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883017	NM_001031679.3(MSRB3):c.81G>A (p.Ser27=)	MSRB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 163978	NM_001031679.3(MSRB3):c.114T>C (p.Phe38=)	MSRB3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2250047	NM_001031679.3(MSRB3):c.122A>G (p.Gln41Arg)	MSRB3 (Q41R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 432479	NM_001031679.3(MSRB3):c.145C>A (p.Pro49Thr)	MSRB3 (P56T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3042554	NM_001031679.3(MSRB3):c.148C>T (p.Leu50=)	MSRB3	Single nucleotide variant (synonymous variant)	MSRB3-related condition	GLikely benign
Select item 1940295	NM_001031679.3(MSRB3):c.174A>G (p.Lys58=)	MSRB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1348334	NM_001031679.3(MSRB3):c.176G>A (p.Gly59Glu)	MSRB3 (G59E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 163979	NM_001031679.3(MSRB3):c.180C>T (p.Thr60=)	MSRB3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2261680	NM_001031679.3(MSRB3):c.184A>C (p.Ser62Arg)	MSRB3 (S69R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1473659	NM_001031679.3(MSRB3):c.185+1G>T	MSRB3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 512954	NM_001031679.3(MSRB3):c.185+7T>A	MSRB3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1226759	NM_001031679.3(MSRB3):c.185+110A>G	MSRB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206997	NM_001031679.3(MSRB3):c.185+303G>A	MSRB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 504958	NM_001031679.3(MSRB3):c.198A>C (p.Gly66=)	MSRB3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1582053	NM_001031679.3(MSRB3):c.222T>C (p.Pro74=)	MSRB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 504613	NM_001031679.3(MSRB3):c.234A>G (p.Lys78=)	MSRB3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1709362	NM_001031679.3(MSRB3):c.238GTT[1] (p.Val81del)	MSRB3 (V81del +1 more)	Microsatellite (inframe_deletion)	Autosomal recessive nonsyndromic hearing loss 74	GUncertain significance
Select item 31055	NM_001031679.3(MSRB3):c.244T>G (p.Cys82Gly)	MSRB3 (C89G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 74 +1 more	GPathogenic/Likely pathogenic
Select item 1897494	NM_001031679.3(MSRB3):c.263+20A>G	MSRB3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1221558	NM_001031679.3(MSRB3):c.263+265G>A	MSRB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 228274	NM_001031679.3(MSRB3):c.264-1G>A	MSRB3	Single nucleotide variant (splice acceptor variant)	Rare genetic deafness	GLikely pathogenic
Select item 1204499	NM_001031679.3(MSRB3):c.285C>T (p.Ser95=)	MSRB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 504614	NM_001031679.3(MSRB3):c.292+11A>G	MSRB3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1263937	NM_001031679.3(MSRB3):c.292+69C>T	MSRB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	BEST3, CAND1 +163 more	Copy number loss	See cases	GPathogenic
Select item 1214811	NM_001031679.3(MSRB3):c.293-109A>G	MSRB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 44117	NM_001031679.3(MSRB3):c.293-6T>C	MSRB3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2019453	NM_001031679.3(MSRB3):c.300T>A (p.Pro100=)	MSRB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906915	NM_001031679.3(MSRB3):c.309C>T (p.His103=)	MSRB3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 163980	NM_001031679.3(MSRB3):c.310G>A (p.Asp104Asn)	MSRB3 (D104N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2777386	NM_001031679.3(MSRB3):c.327G>A (p.Glu109=)	MSRB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1995818	NM_001031679.3(MSRB3):c.337T>C (p.Phe113Leu)	MSRB3 (F113L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1190536	NM_001031679.3(MSRB3):c.342A>C (p.Thr114=)	MSRB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 44118	NM_001031679.3(MSRB3):c.357T>C (p.Tyr119=)	MSRB3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1709363	NM_001031679.3(MSRB3):c.383G>A (p.Cys128Tyr)	MSRB3 (C128Y +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 74	GUncertain significance
Select item 1287775	NM_001031679.3(MSRB3):c.390+101G>A	MSRB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209383	NM_001031679.3(MSRB3):c.390+237T>A	MSRB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274258	NM_001031679.3(MSRB3):c.391-36C>T	MSRB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1938428	NM_001031679.3(MSRB3):c.391-12C>T	MSRB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1678709	NM_001031679.3(MSRB3):c.391-7C>G	MSRB3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 562077	NM_001031679.3(MSRB3):c.391-1G>A	MSRB3	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 74	GPathogenic
Select item 1185616	NM_001031679.3(MSRB3):c.406G>A (p.Gly136Arg)	MSRB3 (G136R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 74	GLikely pathogenic
Select item 2597913	NM_001031679.3(MSRB3):c.431G>A (p.Arg144His)	MSRB3 (R144H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1707253	NM_001031679.3(MSRB3):c.461C>T (p.Ser154Leu)	MSRB3 (S161L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 515788	NM_001031679.3(MSRB3):c.483T>C (p.Pro161=)	MSRB3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 178616	NM_001031679.3(MSRB3):c.486G>A (p.Ala162=)	MSRB3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1369059	NM_001031679.3(MSRB3):c.502G>A (p.Ala168Thr)	MSRB3 (A175T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2618207	NM_001031679.3(MSRB3):c.503C>T (p.Ala168Val)	MSRB3 (A168V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2893531	NM_001031679.3(MSRB3):c.504C>T (p.Ala168=)	MSRB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 504948	NM_001031679.3(MSRB3):c.522C>T (p.Val174=)	MSRB3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 994641	NM_001031679.3(MSRB3):c.523G>A (p.Ala175Thr)	MSRB3 (A175T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2481712	NM_001031679.3(MSRB3):c.527G>A (p.Ser176Asn)	MSRB3 (S176N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 218537	NM_001031679.3(MSRB3):c.530C>T (p.Pro177Leu)	MSRB3 (P184L +1 more)	Single nucleotide variant (missense variant)	not specified	GConflicting classifications of pathogenicity
Select item 504615	NM_001031679.3(MSRB3):c.531G>A (p.Pro177=)	MSRB3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1198457	NM_001031679.3(MSRB3):c.549G>A (p.Ala183=)	MSRB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063238	GRCh37/hg19 12q14.3(chr12:65462762-66830065)x1	GRIP1, HELB +7 more	Copy number loss	not specified	GPathogenic
Select item 2685438	GRCh37/hg19 12q14.3(chr12:65716808-66690108)x1	HMGA2, IRAK3 +3 more	Copy number loss	not provided	GPathogenic
Select item 2685437	GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	AVPR1A, C12orf56 +40 more	Copy number loss	not provided	GPathogenic
Select item 2427638	NC_000012.11:g.(?_65720586)_(65722403_?)del	MSRB3	Deletion	not provided	GPathogenic
Select item 2425940	NC_000012.11:g.(?_64849651)_(65857102_?)del	GNS, LEMD3 +5 more	Deletion	not provided	GPathogenic
Select item 1879249	GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1	LYZ, MDM1 +34 more	Copy number loss	not provided	GPathogenic
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	GPathogenic
Select item 563886	GRCh37/hg19 12q14.3(chr12:65656429-65678117)x1	MSRB3	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 98