"GeneDx"[submitter] AND "DIABLO"[gene] - ClinVar

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

Search results

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	See cases	GPathogenic
Select item 1279245	NM_001371333.1(DIABLO):c.*262dup	B3GNT4, DIABLO	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1247587	NM_001371333.1(DIABLO):c.*108A>G	B3GNT4, DIABLO	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1327665	NM_001371333.1(DIABLO):c.*78G>A	B3GNT4, DIABLO	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1249498	NM_001371333.1(DIABLO):c.*54T>C	B3GNT4, DIABLO	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 226562	NM_001371333.1(DIABLO):c.690G>A (p.Ser230=)	B3GNT4, DIABLO	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 288171	NM_001371333.1(DIABLO):c.670G>A (p.Gly224Arg)	B3GNT4, DIABLO (G224R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 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 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_001371333.1(DIABLO):c.524-20A>C	B3GNT4, DIABLO	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 1276605	NM_001371333.1(DIABLO):c.524-255T>C	B3GNT4, DIABLO	Single nucleotide variant (3 prime UTR variant +1 more)	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 1241040	NM_001371333.1(DIABLO):c.427-72C>A	DIABLO	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 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 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 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 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 (missense variant +1 more)	not specified +1 more	GLikely benign
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 228571	NM_001371333.1(DIABLO):c.19T>A (p.Trp7Arg)	LOC130009040, DIABLO (W7R)	Single nucleotide variant (5 prime UTR variant +1 more)	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 +1 more	GLikely benign
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 1248897	NM_001371333.1(DIABLO):c.-21C>T	DIABLO, LOC130009040	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1216022	NM_019887.6(DIABLO):c.-97T>C	DIABLO	Single nucleotide variant (5 prime UTR variant)	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 1245172	NM_019887.6(DIABLO):c.-209del	DIABLO, LOC112163532	Deletion (5 prime UTR variant)	not provided	GBenign
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 1191827	NM_019887.6(DIABLO):c.-291C>T	DIABLO, LOC112163532	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1290335	NM_019887.6(DIABLO):c.-400GCCCGGCCCCGCCTCCC[4]	DIABLO, LOC112163532	Microsatellite (5 prime UTR variant)	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 1289688	NM_019887.6(DIABLO):c.-400GCCCGGCCCCGCCTCCC[2]	DIABLO, LOC112163532	Microsatellite (5 prime UTR variant)	not provided	GBenign
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 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 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 1189792	NM_019887.6(DIABLO):c.-639-242C>A	LOC112163532, DIABLO +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 253773	GRCh37/hg19 12q24.31(chr12:122676019-122710016)x1	B3GNT4, DIABLO +1 more	Copy number loss	See cases	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: 58