56616[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	CFAP251, CIT +264 more	Copy number gain	See cases	GUncertain significance
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 57610	GRCh38/hg38 12q24.31(chr12:121325874-122505529)x1	ANAPC5, B3GNT4 +127 more	Copy number loss	See cases	GPathogenic
Select item 57611	GRCh38/hg38 12q24.31(chr12:121471000-122459718)x1	B3GNT4, BCL7A +113 more	Copy number loss	See cases	GPathogenic
Select item 150419	GRCh38/hg38 12q24.31(chr12:121802243-122229509)x3	B3GNT4, BCL7A +57 more	Copy number gain	See cases	GUncertain significance
Select item 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	AACS, ABCB9 +330 more	Copy number loss	See cases	GPathogenic
Select item 1279245	NM_030765.4(B3GNT4):c.*738dup	B3GNT4, DIABLO	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1247587	NM_030765.4(B3GNT4):c.*885T>C	B3GNT4, DIABLO	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1327665	NM_030765.4(B3GNT4):c.*915C>T	B3GNT4, DIABLO	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1249498	NM_030765.4(B3GNT4):c.*939A>G	B3GNT4, DIABLO	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 374551	NM_001371333.1(DIABLO):c.702_712del (p.Tyr235fs)	B3GNT4, DIABLO (Y162fs +4 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GUncertain significance
Select item 3082352	NM_001371333.1(DIABLO):c.710G>C (p.Arg237Pro)	B3GNT4, DIABLO (R193P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2884548	NM_001371333.1(DIABLO):c.710G>A (p.Arg237His)	B3GNT4, DIABLO (R184H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2643493	NM_001371333.1(DIABLO):c.709C>T (p.Arg237Cys)	B3GNT4, DIABLO (R140C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2176829	NM_001371333.1(DIABLO):c.699_700delinsCT (p.Glu233_Ala234delinsAspSer)	B3GNT4, DIABLO	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1633306	NM_001371333.1(DIABLO):c.677_700del (p.Glu226_Glu233del)	B3GNT4, DIABLO	Deletion (inframe_deletion +1 more)	DIABLO-related disorder +1 more	GLikely benign
Select item 226562	NM_001371333.1(DIABLO):c.690G>A (p.Ser230=)	B3GNT4, DIABLO	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2810761	NM_001371333.1(DIABLO):c.689C>T (p.Ser230Leu)	B3GNT4, DIABLO (S133L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1528921	NM_001371333.1(DIABLO):c.675G>A (p.Glu225=)	B3GNT4, DIABLO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 288171	NM_001371333.1(DIABLO):c.670G>A (p.Gly224Arg)	DIABLO, B3GNT4 (G224R +4 more)	Single nucleotide variant (missense variant +1 more)	DIABLO-related disorder +2 more	GBenign/Likely benign
Select item 514568	NM_001371333.1(DIABLO):c.660A>G (p.Thr220=)	B3GNT4, DIABLO	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 929895	NM_001371333.1(DIABLO):c.634_635del (p.Gln212fs)	B3GNT4, DIABLO (Q115fs +4 more)	Microsatellite (frameshift variant +1 more)	not specified	GUncertain significance
Select item 2084056	NM_001371333.1(DIABLO):c.627A>G (p.Ala209=)	B3GNT4, DIABLO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2017856	NM_001371333.1(DIABLO):c.614A>C (p.Glu205Ala)	B3GNT4, DIABLO (E161A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2958034	NM_001371333.1(DIABLO):c.611C>T (p.Ala204Val)	B3GNT4, DIABLO (A107V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2440779	NM_001371333.1(DIABLO):c.605G>A (p.Arg202Gln)	B3GNT4, DIABLO (R105Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2636845	NM_001371333.1(DIABLO):c.604C>T (p.Arg202Trp)	B3GNT4, DIABLO (R105W +4 more)	Single nucleotide variant (missense variant +1 more)	DIABLO-related disorder	GUncertain significance
Select item 2186725	NM_001371333.1(DIABLO):c.593A>G (p.His198Arg)	B3GNT4, DIABLO (H101R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2086048	NM_001371333.1(DIABLO):c.567G>A (p.Leu189=)	B3GNT4, DIABLO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 514370	NM_001371333.1(DIABLO):c.546C>T (p.Thr182=)	B3GNT4, DIABLO	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1201322	NM_001371333.1(DIABLO):c.525C>T (p.Gly175=)	B3GNT4, DIABLO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1317978	NM_030765.4(B3GNT4):c.*1209T>G	B3GNT4, DIABLO	Single nucleotide variant (intron variant +1 more)	not provided	GBenign/Likely benign
Select item 1276605	NM_030765.4(B3GNT4):c.*1444A>G	B3GNT4, DIABLO	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1694689	NM_001371333.1(DIABLO):c.524-1159T>C	DIABLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2643494	NM_001371333.1(DIABLO):c.524-1213A>G	DIABLO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296865	NM_001371333.1(DIABLO):c.523+150A>G	DIABLO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280769	NM_001371333.1(DIABLO):c.523+34A>T	DIABLO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1703991	NM_001371333.1(DIABLO):c.523+33T>A	DIABLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3082351	NM_001371333.1(DIABLO):c.519A>C (p.Gln173His)	DIABLO (Q100H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2032605	NM_001371333.1(DIABLO):c.503C>T (p.Ala168Val)	DIABLO (A168V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2268467	NM_001371333.1(DIABLO):c.484G>T (p.Gly162Cys)	DIABLO (G162C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1475610	NM_001371333.1(DIABLO):c.474G>A (p.Met158Ile)	DIABLO (M85I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1241040	NM_001371333.1(DIABLO):c.427-72C>A	DIABLO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2790531	NM_001371333.1(DIABLO):c.426+20C>T	DIABLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1567952	NM_001371333.1(DIABLO):c.426+16T>G	DIABLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1969361	NM_001371333.1(DIABLO):c.426+15C>G	DIABLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 499494	NM_001371333.1(DIABLO):c.426+1G>T	DIABLO	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 682493	NM_001371333.1(DIABLO):c.394G>A (p.Val132Met)	DIABLO (V59M +4 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2969127	NM_001371333.1(DIABLO):c.384G>A (p.Glu128=)	DIABLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 30449	NM_001371333.1(DIABLO):c.377C>T (p.Ser126Leu)	DIABLO (S126L +4 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 505114	NM_001371333.1(DIABLO):c.349T>C (p.Tyr117His)	DIABLO (Y117H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 504799	NM_001371333.1(DIABLO):c.316-8A>G	DIABLO	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1198615	NM_001371333.1(DIABLO):c.316-101T>C	DIABLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204387	NM_001371333.1(DIABLO):c.316-218T>C	DIABLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239053	NM_001371333.1(DIABLO):c.316-258A>T	DIABLO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231130	NM_001371333.1(DIABLO):c.315+272_315+273dup	DIABLO	Duplication (intron variant)	not provided	GBenign
Select item 1193881	NM_001371333.1(DIABLO):c.315+272dup	DIABLO	Duplication (intron variant)	not provided	GLikely benign
Select item 1271137	NM_001371333.1(DIABLO):c.315+286del	DIABLO	Deletion (intron variant)	not provided	GBenign
Select item 228574	NM_001371333.1(DIABLO):c.315+6T>A	DIABLO	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2293033	NM_001371333.1(DIABLO):c.311C>T (p.Thr104Ile)	DIABLO (T51I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 546148	NM_001371333.1(DIABLO):c.301A>G (p.Thr101Ala)	DIABLO (T101A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 228572	NM_001371333.1(DIABLO):c.291T>G (p.Ile97Met)	DIABLO (I97M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1203215	NM_001371333.1(DIABLO):c.285G>A (p.Ala95=)	DIABLO	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2981170	NM_001371333.1(DIABLO):c.271C>G (p.Gln91Glu)	DIABLO (Q91E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2966277	NM_001371333.1(DIABLO):c.268_271del (p.Ser90fs)	DIABLO (S37fs +2 more)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 727382	NM_001371333.1(DIABLO):c.269C>G (p.Ser90Cys)	DIABLO (S37C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3015439	NM_001371333.1(DIABLO):c.255C>T (p.Thr85=)	DIABLO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2532836	NM_001371333.1(DIABLO):c.250A>G (p.Ser84Gly)	DIABLO (S84G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082350	NM_001371333.1(DIABLO):c.244A>G (p.Thr82Ala)	DIABLO (T82A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396819	NM_001371333.1(DIABLO):c.240G>C (p.Leu80Phe)	DIABLO (L80F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2688925	NM_001371333.1(DIABLO):c.234_235del (p.Ser79fs)	DIABLO (S26fs +2 more)	Microsatellite (frameshift variant +1 more)	Autosomal dominant nonsyndromic hearing loss 64	GUncertain significance
Select item 3007168	NM_001371333.1(DIABLO):c.228A>G (p.Arg76=)	DIABLO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2259678	NM_001371333.1(DIABLO):c.222G>A (p.Met74Ile)	DIABLO (M1I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1279938	NM_001371333.1(DIABLO):c.219G>C (p.Leu73Phe)	DIABLO (L20F +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal dominant nonsyndromic hearing loss +1 more	GUncertain significance
Select item 2715054	NM_001371333.1(DIABLO):c.184A>G (p.Lys62Glu)	DIABLO (K62E +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1904304	NM_001371333.1(DIABLO):c.184-17A>G	DIABLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282932	NM_001371333.1(DIABLO):c.184-70G>A	DIABLO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213426	NM_001371333.1(DIABLO):c.183+119A>G	DIABLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223025	NM_001371333.1(DIABLO):c.183+63G>A	DIABLO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1499453	NM_001371333.1(DIABLO):c.183+6G>A	DIABLO	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 228570	NM_001371333.1(DIABLO):c.179C>T (p.Ala60Val)	DIABLO (A60V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 227299	NM_001371333.1(DIABLO):c.175A>G (p.Ile59Val)	DIABLO (I59V)	Single nucleotide variant (intron variant +1 more)	not specified +1 more	GLikely benign
Select item 2315405	NM_001371333.1(DIABLO):c.158C>T (p.Thr53Ile)	DIABLO (T53I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2135074	NM_001371333.1(DIABLO):c.101G>T (p.Cys34Phe)	DIABLO (C34F)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2166494	NM_001371333.1(DIABLO):c.99G>T (p.Arg33=)	DIABLO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 973185	NM_001371333.1(DIABLO):c.98G>A (p.Arg33Gln)	DIABLO (R33Q)	Single nucleotide variant (missense variant +1 more)	DIABLO-Related Hearing Loss	Gnot provided
Select item 2799295	NM_001371333.1(DIABLO):c.66G>C (p.Leu22Phe)	DIABLO (L22F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2355950	NM_001371333.1(DIABLO):c.59A>C (p.Gln20Pro)	DIABLO (Q20P)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2324404	NM_001371333.1(DIABLO):c.52T>A (p.Tyr18Asn)	DIABLO (Y18N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1225653	NM_001371333.1(DIABLO):c.51-318dup	DIABLO	Duplication (5 prime UTR variant +1 more)	Autosomal dominant nonsyndromic hearing loss 64 +1 more	GBenign
Select item 1262496	NM_001371333.1(DIABLO):c.50+343C>T	DIABLO	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1194399	NM_001371333.1(DIABLO):c.50+314AGG[2]	DIABLO	Microsatellite (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1197913	NM_001371333.1(DIABLO):c.50+318G>A	DIABLO	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1201928	NM_001371333.1(DIABLO):c.50+255_50+256del	DIABLO	Deletion (5 prime UTR variant +1 more)	not provided	GLikely benign

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