DIABLO[gene] and "single gene"[properties] - ClinVar

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

Search results

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3271948	NM_001371333.1(DIABLO):c.518A>G (p.Gln173Arg)	DIABLO (Q100R +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 3271947	NM_001371333.1(DIABLO):c.411A>G (p.Ile137Met)	DIABLO (I40M +4 more)	Single nucleotide variant (missense variant)	not specified	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 3350979	NM_001371333.1(DIABLO):c.379G>A (p.Glu127Lys)	DIABLO (E127K +4 more)	Single nucleotide variant (missense variant)	DIABLO-related disorder	GUncertain significance
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 provided +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 provided +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 3271946	NM_001371333.1(DIABLO):c.259A>G (p.Thr87Ala)	DIABLO (T14A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3250382	NM_001371333.1(DIABLO):c.248_251del (p.Asp83fs)	DIABLO (D10fs +2 more)	Deletion (frameshift variant +1 more)	Autosomal dominant nonsyndromic hearing loss 64	GLikely pathogenic
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 provided +1 more	GConflicting classifications of pathogenicity
Select item 227299	NM_001371333.1(DIABLO):c.175A>G (p.Ile59Val)	DIABLO (I59V)	Single nucleotide variant (missense 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 (missense 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 provided +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
Select item 1200460	NM_001371333.1(DIABLO):c.50+234C>T	DIABLO	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1216022	NM_019887.6(DIABLO):c.-97T>C	DIABLO	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 3244430	NC_000012.11:g.(?_122692928)_(122693144_?)dup	DIABLO	Duplication	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 69