21398[HGNC] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +218 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +155 more	Copy number loss	See cases	GPathogenic
Select item 57729	GRCh38/hg38 3p14.3(chr3:57911290-58409928)x3	ABHD6, DNASE1L3 +30 more	Copy number gain	See cases	GUncertain significance
Select item 2390096	NM_001320126.2(ABHD6):c.22A>T (p.Met8Leu)	ABHD6 (M8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131116	NM_001320126.2(ABHD6):c.35C>T (p.Ala12Val)	ABHD6 (A12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329718	NM_001320126.2(ABHD6):c.103A>C (p.Ile35Leu)	ABHD6 (I35L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369328	NM_001320126.2(ABHD6):c.152G>A (p.Arg51His)	ABHD6 (R51H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323259	NM_001320126.2(ABHD6):c.226A>C (p.Met76Leu)	ABHD6 (M76L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257746	NM_001320126.2(ABHD6):c.286A>G (p.Lys96Glu)	ABHD6 (K96E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131115	NM_001320126.2(ABHD6):c.323A>G (p.His108Arg)	ABHD6 (H108R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323517	NM_001320126.2(ABHD6):c.445A>G (p.Met149Val)	ABHD6 (M149V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314484	NM_001320126.2(ABHD6):c.577G>C (p.Gly193Arg)	ABHD6 (G193R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131122	NM_001320126.2(ABHD6):c.586G>A (p.Ala196Thr)	ABHD6 (A196T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708984	NM_001320126.2(ABHD6):c.681+5C>T	ABHD6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3323343	NM_001320126.2(ABHD6):c.707G>A (p.Arg236His)	ABHD6 (R236H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131124	NM_001320126.2(ABHD6):c.723C>A (p.Asn241Lys)	ABHD6 (N241K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332092	NM_001320126.2(ABHD6):c.731G>A (p.Arg244Gln)	ABHD6 (R244Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323430	NM_001320126.2(ABHD6):c.799A>G (p.Lys267Glu)	ABHD6 (K267E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623954	NM_001320126.2(ABHD6):c.847G>A (p.Val283Met)	ABHD6 (V283M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336009	NM_001320126.2(ABHD6):c.892G>T (p.Val298Leu)	ABHD6 (V298L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552585	NM_001320126.2(ABHD6):c.991G>C (p.Asp331His)	ABHD6 (D331H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374532	NM_001320126.2(ABHD6):c.992A>G (p.Asp331Gly)	ABHD6 (D331G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246999	NC_000003.11:g.(?_57843440)_(58520833_?)del	ABHD6, ACOX2 +7 more	Deletion	not provided	GPathogenic
Select item 3062746	GRCh37/hg19 3p14.3(chr3:58125268-58252939)x3	ABHD6, DNASE1L3 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 2423438	NC_000003.11:g.(?_57130421)_(58520833_?)del	ABHD6, ACOX2 +15 more	Deletion	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 980506	GRCh37/hg19 3p14.3(chr3:57912545-58357970)x3	PXK, RPP14 +4 more	Copy number gain	not provided	GUncertain significance
Select item 685671	GRCh37/hg19 3p14.3-14.1(chr3:57076136-65716956)x1	ABHD6, ACOX2 +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 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic

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Items: 32