HHLA2[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ADGRG7, ABHD10 +430 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 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 +397 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57243	GRCh38/hg38 3q13.11-13.13(chr3:103692220-109605902)x1	ALCAM, BBX +89 more	Copy number loss	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC129937263, LOC129937264 +247 more	Copy number gain	See cases	GPathogenic
Select item 150361	GRCh38/hg38 3q13.11-13.13(chr3:106451492-109265496)x1	BBX, C3orf85 +61 more	Copy number loss	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +185 more	Copy number loss	See cases	GPathogenic
Select item 2300733	NM_001282556.2(HHLA2):c.31C>G (p.Leu11Val)	HHLA2 (L11V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344527	NM_001282556.2(HHLA2):c.115G>A (p.Val39Ile)	HHLA2 (V39I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2550168	NM_001282556.2(HHLA2):c.272G>T (p.Arg91Met)	HHLA2 (R91M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400619	NM_001282556.2(HHLA2):c.482T>C (p.Val161Ala)	HHLA2 (V161A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374417	NM_001282556.2(HHLA2):c.487A>G (p.Ser163Gly)	HHLA2 (S163G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354000	NM_001282556.2(HHLA2):c.497C>T (p.Pro166Leu)	HHLA2 (P102L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208893	NM_001282556.2(HHLA2):c.552G>A (p.Met184Ile)	HHLA2 (M184I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358213	NM_001282556.2(HHLA2):c.562G>C (p.Gly188Arg)	HHLA2 (G124R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623314	NM_001282556.2(HHLA2):c.635T>C (p.Ile212Thr)	HHLA2 (I212T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316080	NM_001282556.2(HHLA2):c.670C>T (p.Arg224Cys)	HHLA2 (R224C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371845	NM_001282556.2(HHLA2):c.677C>T (p.Thr226Met)	HHLA2 (T162M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561844	NM_001282556.2(HHLA2):c.697A>G (p.Lys233Glu)	HHLA2 (K233E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622644	NM_001282556.2(HHLA2):c.715G>A (p.Val239Ile)	HHLA2 (V175I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455811	NM_001282556.2(HHLA2):c.817T>A (p.Tyr273Asn)	HHLA2 (Y273N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281036	NM_001282556.2(HHLA2):c.890A>G (p.Gln297Arg)	HHLA2 (Q297R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246983	NM_001282556.2(HHLA2):c.917A>G (p.Asp306Gly)	HHLA2 (D242G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265297	NM_001282556.2(HHLA2):c.1181G>T (p.Gly394Val)	HHLA2 (G330V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207807	NM_001282556.2(HHLA2):c.1186C>T (p.Arg396Cys)	HHLA2 (R332C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395578	NM_001282556.2(HHLA2):c.1211G>A (p.Gly404Asp)	HHLA2 (G404D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685089	GRCh37/hg19 3q13.12-13.13(chr3:106530324-108811014)x1	BBX, CCDC54 +10 more	Copy number loss	not provided	GUncertain significance
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 685811	GRCh37/hg19 3q13.13(chr3:107982673-108483113)x3	CIP2A, DZIP3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 562801	GRCh37/hg19 3q13.13(chr3:107976442-108467220)x3	HHLA2, MYH15 +2 more	Copy number gain	not provided	GUncertain significance
Select item 562800	GRCh37/hg19 3q13.12-13.13(chr3:107548272-108187643)x1	MYH15, CD47 +2 more	Copy number loss	not provided	GUncertain significance
Select item 562799	GRCh37/hg19 3q13.12-13.13(chr3:106706719-109171489)x1	MORC1-AS1, DZIP3 +13 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +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: 40