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

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 (non-coding transcript variant +1 more)	DIAPH3-related condition	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)	not provided	GLikely benign
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

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Links from Gene

Items: 47