Related gene-specific medical variations for Gene (Select 56616) - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3250381	NM_001371333.1(DIABLO):c.718T>C (p.Ter240Arg)	B3GNT4, DIABLO	Single nucleotide variant (stop lost +1 more)	Autosomal dominant nonsyndromic hearing loss 64	GLikely pathogenic
Select item 3244430	NC_000012.11:g.(?_122692928)_(122693144_?)dup	DIABLO	Duplication	not provided	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 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 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 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 2722065	NM_001371333.1(DIABLO):c.34G>C (p.Val12Leu)	DIABLO, LOC130009040 (V12L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2691601	NM_001371333.1(DIABLO):c.-1A>G	DIABLO, LOC130009040	Single nucleotide variant (5 prime UTR variant)	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 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 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 2632314	NM_001371333.1(DIABLO):c.23T>C (p.Leu8Pro)	DIABLO, LOC130009040 (L8P)	Single nucleotide variant (5 prime UTR variant +1 more)	DIABLO-related disorder	GUncertain significance
Select item 2605660	NM_001371333.1(DIABLO):c.41C>T (p.Ser14Leu)	DIABLO, LOC130009040 (S14L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	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 2331654	NM_001371333.1(DIABLO):c.28C>T (p.Arg10Cys)	DIABLO, LOC130009040 (R10C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 2249532	NM_001371333.1(DIABLO):c.8C>T (p.Ala3Val)	DIABLO, LOC130009040 (A3V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	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 2176829	NM_001371333.1(DIABLO):c.699_700delinsCT (p.Glu233_Ala234delinsAspSer)	B3GNT4, DIABLO	Indel (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 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 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 1567454	NM_001371333.1(DIABLO):c.30C>G (p.Arg10=)	LOC130009040, DIABLO	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 1384532	NM_001371333.1(DIABLO):c.48C>A (p.Phe16Leu)	DIABLO, LOC130009040 (F16L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
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 1317978	NM_030765.4(B3GNT4):c.*1209T>G	B3GNT4, DIABLO	Single nucleotide variant (intron variant +1 more)	not provided	GBenign/Likely benign
Select item 1290335	NM_019887.6(DIABLO):c.-400GCCCGGCCCCGCCTCCC[4]	DIABLO, LOC112163532	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1289688	NM_019887.6(DIABLO):c.-400GCCCGGCCCCGCCTCCC[2]	DIABLO, LOC112163532	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1279245	NM_030765.4(B3GNT4):c.*738dup	B3GNT4, DIABLO	Duplication (3 prime UTR variant)	not provided	GBenign
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 1259223	NM_019887.6(DIABLO):c.-400GCCCGGCCCCGCCTCCC[5]	DIABLO, LOC112163532	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1249498	NM_030765.4(B3GNT4):c.*939A>G	B3GNT4, DIABLO	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1248897	NM_001371333.1(DIABLO):c.-21C>T	DIABLO, LOC130009040	Single nucleotide variant (5 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 1245172	NM_019887.6(DIABLO):c.-209del	DIABLO, LOC112163532	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 1216613	NM_019887.6(DIABLO):c.-590C>T	DIABLO, LOC101593348 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1211356	NM_019887.6(DIABLO):c.-179G>A	DIABLO, LOC112163532	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1208913	NM_019887.6(DIABLO):c.-226G>C	DIABLO, LOC112163532	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely 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 1191827	NM_019887.6(DIABLO):c.-291C>T	DIABLO, LOC112163532	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1189792	NM_019887.6(DIABLO):c.-639-242C>A	DIABLO, LOC101593348 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1189340	NM_019887.6(DIABLO):c.-554C>G	DIABLO, LOC101593348 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1185835	NM_019887.6(DIABLO):c.-639-49T>C	DIABLO, LOC101593348 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 666819	NM_001371333.1(DIABLO):c.-9C>G	LOC130009040, DIABLO	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 593122	NM_001371333.1(DIABLO):c.50+5C>T	DIABLO, LOC130009040	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
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 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 374551	NM_001371333.1(DIABLO):c.702_712del (p.Tyr235fs)	DIABLO, B3GNT4 (Y162fs +4 more)	Deletion (frameshift variant +1 more)	Hearing impairment +1 more	GUncertain significance
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 228571	NM_001371333.1(DIABLO):c.19T>A (p.Trp7Arg)	DIABLO, LOC130009040 (W7R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 228567	NM_001371333.1(DIABLO):c.-11C>T	DIABLO, LOC130009040	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 227298	NM_001371333.1(DIABLO):c.8C>G (p.Ala3Gly)	DIABLO, LOC130009040 (A3G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 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

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Links from Gene

Items: 55