DIAPH3-AS1[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LOC130009665, LOC130009659 +612 more	Copy number loss	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	LOC130009879, LOC130009880 +657 more	Copy number loss	See cases	GPathogenic
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 147464	GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1	OBI1-AS1, OLFM4 +513 more	Copy number loss	See cases	GPathogenic
Select item 154070	GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1	ALG11, ARL11 +266 more	Copy number loss	See cases	GPathogenic
Select item 154393	GRCh38/hg38 13q21.1-21.31(chr13:55851510-63770251)x1	LINC00358, LINC00374 +50 more	Copy number loss	See cases	GUncertain significance
Select item 149165	GRCh38/hg38 13q21.2(chr13:59865170-60087340)x1	DIAPH3, DIAPH3-AS1	Copy number loss	See cases	GUncertain significance
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 3023321	NM_001042517.2(DIAPH3):c.771+12C>T	DIAPH3, DIAPH3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2643832	NM_001042517.2(DIAPH3):c.768G>A (p.Thr256=)	DIAPH3, DIAPH3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2876712	NM_001042517.2(DIAPH3):c.702-12A>G	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 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 1653604	NM_001042517.2(DIAPH3):c.685C>T (p.Leu229=)	DIAPH3, DIAPH3-AS1	Single nucleotide variant (synonymous 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 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 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 1590162	NM_001042517.2(DIAPH3):c.627-4T>C	DIAPH3, DIAPH3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1272224	NM_001042517.2(DIAPH3):c.627-28G>A	DIAPH3, DIAPH3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1181901	NM_001042517.2(DIAPH3):c.627-271C>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 1195772	NM_001042517.2(DIAPH3):c.626+181_626+195dup	DIAPH3, DIAPH3-AS1	Duplication (intron variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 1260926	NM_001042517.2(DIAPH3):c.496-106T>C	DIAPH3, DIAPH3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290468	NM_001042517.2(DIAPH3):c.496-152T>G	DIAPH3-AS1, DIAPH3	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 64