Related gene-specific medical variations for Gene (Select 81624) - ClinVar

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

Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244201	NC_000013.10:g.(?_60240718)_(60738073_?)dup	DIAPH3	Duplication	not provided	GUncertain significance
Select item 3244200	NC_000013.10:g.(?_60565272)_(60566737_?)del	DIAPH3	Deletion	not provided	GUncertain significance
Select item 3244199	NC_000013.10:g.(?_60240718)_(60738073_?)del	DIAPH3	Deletion	not provided	GUncertain significance
Select item 3063282	GRCh37/hg19 13q21.2(chr13:60416214-60817501)x1	DIAPH3	Copy number loss	not specified	GUncertain significance
Select item 3029688	NM_001042517.2(DIAPH3):c.545A>G (p.Glu182Gly)	DIAPH3, DIAPH3-AS1 (E112G +3 more)	Single nucleotide variant (missense variant +1 more)	DIAPH3-related disorder	GUncertain significance
Select item 3023321	NM_001042517.2(DIAPH3):c.771+12C>T	DIAPH3, DIAPH3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011877	NM_001042517.2(DIAPH3):c.646C>A (p.His216Asn)	DIAPH3, DIAPH3-AS1 (H170N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982801	NM_001042517.2(DIAPH3):c.513C>G (p.Ser171Arg)	DIAPH3, DIAPH3-AS1 (S160R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955832	NM_001042517.2(DIAPH3):c.626+14T>C	DIAPH3, DIAPH3-AS1	Single nucleotide variant (intron variant)	Autosomal dominant auditory neuropathy 1 +1 more	GConflicting classifications of pathogenicity
Select item 2896049	NM_001042517.2(DIAPH3):c.514C>T (p.Arg172Ter)	DIAPH3, DIAPH3-AS1 (R102* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2876712	NM_001042517.2(DIAPH3):c.702-12A>G	DIAPH3, DIAPH3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776600	NM_001042517.2(DIAPH3):c.569A>G (p.Glu190Gly)	DIAPH3, DIAPH3-AS1 (E190G +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2685468	GRCh37/hg19 13q21.2(chr13:60592258-60680722)x1	DIAPH3	Copy number loss	not provided	GUncertain significance
Select item 2685467	GRCh37/hg19 13q21.2(chr13:60450342-60661812)x1	DIAPH3	Copy number loss	not provided	GUncertain significance
Select item 2643832	NM_001042517.2(DIAPH3):c.768G>A (p.Thr256=)	DIAPH3, DIAPH3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2528463	NM_001042517.2(DIAPH3):c.610A>G (p.Thr204Ala)	DIAPH3, DIAPH3-AS1 (T134A +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2440785	NM_001042517.2(DIAPH3):c.598C>T (p.Arg200Ter)	DIAPH3, DIAPH3-AS1 (R130* +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant auditory neuropathy 1	GUncertain significance
Select item 2421862	NM_001042517.2(DIAPH3):c.566A>G (p.Asp189Gly)	DIAPH3, DIAPH3-AS1 (D119G +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1899934	NM_001042517.2(DIAPH3):c.771+1G>A	DIAPH3, DIAPH3-AS1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1713662	NM_001042517.2(DIAPH3):c.646C>T (p.His216Tyr)	DIAPH3, DIAPH3-AS1 (H146Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1653604	NM_001042517.2(DIAPH3):c.685C>T (p.Leu229=)	DIAPH3, DIAPH3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1590162	NM_001042517.2(DIAPH3):c.627-4T>C	DIAPH3, DIAPH3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1440363	NM_001042517.2(DIAPH3):c.685C>G (p.Leu229Val)	DIAPH3, DIAPH3-AS1 (L229V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1340190	GRCh37/hg19 13q21.2(chr13:59668842-60305252)x3	DIAPH3	Copy number gain	not provided	GUncertain significance
Select item 1308054	NM_001042517.2(DIAPH3):c.583T>A (p.Cys195Ser)	DIAPH3, DIAPH3-AS1 (C125S +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1290468	NM_001042517.2(DIAPH3):c.496-152T>G	DIAPH3-AS1, DIAPH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282353	NM_001042517.2(DIAPH3):c.627-298T>G	DIAPH3, DIAPH3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272224	NM_001042517.2(DIAPH3):c.627-28G>A	DIAPH3, DIAPH3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260926	NM_001042517.2(DIAPH3):c.496-106T>C	DIAPH3, DIAPH3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255498	NM_001042517.2(DIAPH3):c.627-20G>A	DIAPH3, DIAPH3-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1215569	NM_001042517.2(DIAPH3):c.686T>C (p.Leu229Pro)	DIAPH3, DIAPH3-AS1 (L159P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1214625	NM_001042517.2(DIAPH3):c.627-268G>A	DIAPH3, DIAPH3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210950	NM_001042517.2(DIAPH3):c.701T>C (p.Ile234Thr)	DIAPH3, DIAPH3-AS1 (I164T +3 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1203527	NM_001042517.2(DIAPH3):c.771+288T>C	DIAPH3, DIAPH3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198319	NM_001042517.2(DIAPH3):c.771+62G>A	DIAPH3, DIAPH3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195772	NM_001042517.2(DIAPH3):c.626+181_626+195dup	DIAPH3, DIAPH3-AS1	Duplication (intron variant)	not provided	GLikely benign
Select item 1188062	NM_001042517.2(DIAPH3):c.531G>A (p.Gln177=)	DIAPH3, DIAPH3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1181901	NM_001042517.2(DIAPH3):c.627-271C>G	DIAPH3-AS1, DIAPH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 979374	GRCh37/hg19 13q21.2(chr13:60713376-60921593)x3	DIAPH3	Copy number gain	not provided	GUncertain significance
Select item 815593	GRCh37/hg19 13q21.2(chr13:60420105-60594349)x1	DIAPH3	Copy number loss	not provided	GUncertain significance
Select item 812155	NM_001042517.2(DIAPH3):c.517C>G (p.Gln173Glu)	DIAPH3, DIAPH3-AS1 (Q173E +3 more)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 686733	GRCh37/hg19 13q21.2(chr13:60467505-60632648)x3	DIAPH3	Copy number gain	not provided	GUncertain significance
Select item 685057	GRCh37/hg19 13q21.2(chr13:59674028-60691612)x3	DIAPH3	Copy number gain	not provided	GUncertain significance
Select item 624513	GRCh37/hg19 13q21.2(chr13:60307463-60429347)x1	DIAPH3	Copy number loss	not provided	GLikely benign
Select item 564009	GRCh37/hg19 13q21.2(chr13:60374705-60583008)x1	DIAPH3	Copy number loss	not provided	GUncertain significance
Select item 564008	GRCh37/hg19 13q21.2(chr13:60530375-60730636)x1	DIAPH3	Copy number loss	not provided	GUncertain significance
Select item 511180	NM_001042517.2(DIAPH3):c.711A>T (p.Lys237Asn)	DIAPH3, DIAPH3-AS1 (K237N +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 253791	GRCh37/hg19 13q21.2(chr13:60439304-60661474)x3	DIAPH3	Copy number gain	See cases	GUncertain significance
Select item 253781	GRCh37/hg19 13q21.2(chr13:60552857-60623488)x1	DIAPH3	Copy number loss	See cases	GUncertain significance
Select item 253706	GRCh37/hg19 13q21.2(chr13:60346337-60439363)x1	DIAPH3	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

Links from Gene

Items: 50