25656[HGNC] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC132088858, LOC132088860 +248 more	Copy number gain	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +186 more	Copy number loss	See cases	GPathogenic
Select item 3130094	NM_018394.4(ABHD10):c.25G>T (p.Val9Leu)	ABHD10 (V9L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251042	NM_018394.4(ABHD10):c.51C>A (p.Ser17Arg)	ABHD10 (S17R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2341833	NM_018394.4(ABHD10):c.79C>T (p.Pro27Ser)	ABHD10 (P27S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130077	NM_018394.4(ABHD10):c.109C>T (p.Arg37Trp)	ABHD10 (R37W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526602	NM_018394.4(ABHD10):c.114A>G (p.Ile38Met)	ABHD10 (I38M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232779	NM_018394.4(ABHD10):c.131G>A (p.Arg44Gln)	ABHD10 (R44Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316881	NM_018394.4(ABHD10):c.135G>T (p.Trp45Cys)	ABHD10 (W45C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341949	NM_018394.4(ABHD10):c.140C>G (p.Pro47Arg)	ABHD10 (P47R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130097	NM_018394.4(ABHD10):c.317C>G (p.Ala106Gly)	ABHD10 (A106G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348496	NM_018394.4(ABHD10):c.322A>G (p.Ile108Val)	ABHD10 (I108V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316810	NM_018394.4(ABHD10):c.375C>A (p.Ser125Arg)	ABHD10 (S125R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316828	NM_018394.4(ABHD10):c.449G>A (p.Gly150Glu)	ABHD10 (G150E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228787	NM_018394.4(ABHD10):c.478C>T (p.His160Tyr)	ABHD10 (H160Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316704	NM_018394.4(ABHD10):c.530C>T (p.Thr177Ile)	ABHD10 (T177I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560992	NM_018394.4(ABHD10):c.551C>A (p.Thr184Lys)	ABHD10 (T184K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477160	NM_018394.4(ABHD10):c.584A>T (p.Lys195Met)	ABHD10 (K195M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3130117	NM_018394.4(ABHD10):c.596T>C (p.Met199Thr)	ABHD10 (M199T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3316617	NM_018394.4(ABHD10):c.680A>G (p.His227Arg)	ABHD10 (H227R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2539735	NM_018394.4(ABHD10):c.805G>A (p.Val269Met)	ABHD10 (V269M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2212702	NM_018394.4(ABHD10):c.833A>T (p.Asp278Val)	ABHD10 (D278V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3130136	NM_018394.4(ABHD10):c.893T>C (p.Ile298Thr)	ABHD10 (I298T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2685090	GRCh37/hg19 3q13.13-13.31(chr3:110398276-113879363)x1	ABHD10, ATG3 +31 more	Copy number loss	not provided	GUncertain significance
Select item 2498335	GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1	ABHD10, ATG3 +34 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 1807773	GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1	ABHD10, ATG3 +49 more	Copy number loss	not provided	GPathogenic
Select item 1703653	GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696)	ABHD10, ATG3 +51 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 814468	GRCh37/hg19 3q12.3-13.2(chr3:101812245-112174485)x1	ABHD10, ALCAM +29 more	Copy number loss	not provided	GPathogenic
Select item 562805	GRCh37/hg19 3q13.13-13.31(chr3:110645295-115103586)x1	ABHD10, ATG3 +34 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393800	GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1	ABHD10, ALCAM +53 more	Copy number loss	See cases	GPathogenic

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Items: 38