28235[HGNC] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 3130496	NM_001146314.2(ABHD14B):c.558G>A (p.Ala186=)	ABHD14B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2481526	NM_001146314.2(ABHD14B):c.535C>T (p.Arg179Trp)	ABHD14B (R179W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386189	NM_001146314.2(ABHD14B):c.386C>T (p.Pro129Leu)	ABHD14B (P129L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463150	NM_001146314.2(ABHD14B):c.317T>C (p.Val106Ala)	ABHD14B (V106A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313356	NM_001146314.2(ABHD14B):c.314C>A (p.Pro105Gln)	ABHD14B (P105Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512540	NM_001146314.2(ABHD14B):c.250A>G (p.Ile84Val)	ABHD14B (I46V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613029	NM_001146314.2(ABHD14B):c.241C>G (p.Pro81Ala)	ABHD14B (P81A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599904	NM_001146314.2(ABHD14B):c.241C>T (p.Pro81Ser)	ABHD14B (P43S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205073	NM_001146314.2(ABHD14B):c.224C>G (p.Ser75Cys)	ABHD14B (S37C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319118	NM_001146314.2(ABHD14B):c.188G>A (p.Arg63Gln)	ABHD14B (R63Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2510568	NM_001146314.2(ABHD14B):c.187C>T (p.Arg63Trp)	ABHD14B (R63W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130474	NM_001146314.2(ABHD14B):c.136G>A (p.Glu46Lys)	ABHD14B (E46K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467170	NM_001146314.2(ABHD14B):c.131C>T (p.Ser44Phe)	ABHD14B (S44F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130473	NM_001146314.2(ABHD14B):c.124C>T (p.Arg42Cys)	ABHD14B (R42C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509083	NM_001146314.2(ABHD14B):c.79G>A (p.Gly27Ser)	ABHD14B (G27S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3130499	NM_001146314.2(ABHD14B):c.65G>A (p.Arg22Gln)	ABHD14B (R22Q)	Single nucleotide variant (missense variant +1 more)	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 980509	GRCh37/hg19 3p21.2-21.1(chr3:51975459-52561678)x4	RRP9, SEMA3G +23 more	Copy number gain	not provided	GUncertain significance
Select item 814444	GRCh37/hg19 3p21.2-21.1(chr3:51247306-53069942)x3	ABHD14A, ABHD14B +48 more	Copy number gain	not provided	GUncertain significance
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	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

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Items: 24