ClinVar for Gene (Select 55802) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271107	NM_018403.7(DCP1A):c.1175T>C (p.Val392Ala)	DCP1A (V233A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271106	NM_018403.7(DCP1A):c.638G>A (p.Gly213Glu)	DCP1A (G92E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271105	NM_018403.7(DCP1A):c.764A>G (p.Asn255Ser)	DCP1A (N217S +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3271104	NM_018403.7(DCP1A):c.1331C>G (p.Ala444Gly)	DCP1A (A285G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271103	NM_018403.7(DCP1A):c.1184T>C (p.Leu395Pro)	DCP1A (L395P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271102	NM_018403.7(DCP1A):c.419A>G (p.Lys140Arg)	DCP1A (K140R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271100	NM_018403.7(DCP1A):c.1541C>A (p.Ser514Tyr)	DCP1A (S442Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080566	NM_018403.7(DCP1A):c.992T>A (p.Val331Asp)	DCP1A (V293D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080565	NM_018403.7(DCP1A):c.988C>A (p.Gln330Lys)	DCP1A (Q209K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080563	NM_018403.7(DCP1A):c.415G>A (p.Asp139Asn)	DCP1A (D139N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080562	NM_018403.7(DCP1A):c.1728C>A (p.Asn576Lys)	DCP1A (N455K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080561	NM_018403.7(DCP1A):c.152A>T (p.Glu51Val)	DCP1A (E51V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080560	NM_018403.7(DCP1A):c.1375C>T (p.Pro459Ser)	DCP1A (P421S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080559	NM_018403.7(DCP1A):c.1277G>A (p.Gly426Asp)	DCP1A (G267D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080558	NM_018403.7(DCP1A):c.1211A>G (p.His404Arg)	DCP1A (H245R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080557	NM_018403.7(DCP1A):c.1063C>T (p.Leu355Phe)	DCP1A (L283F +4 more)	Single nucleotide variant (missense variant)	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 2614347	NM_018403.7(DCP1A):c.1573T>C (p.Ser525Pro)	DCP1A (S487P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613903	NM_018403.7(DCP1A):c.65A>G (p.Tyr22Cys)	DCP1A (Y22C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570051	NM_018403.7(DCP1A):c.793T>A (p.Leu265Ile)	DCP1A (L193I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537914	NM_018403.7(DCP1A):c.374T>C (p.Val125Ala)	DCP1A (V125A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494376	NM_018403.7(DCP1A):c.608C>T (p.Ser203Phe)	DCP1A (S131F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2423375	NC_000003.11:g.(?_52018081)_(53845433_?)del	ACY1, ALAS1 +35 more	Deletion	not provided	GUncertain significance
Select item 2379436	NM_018403.7(DCP1A):c.857C>G (p.Pro286Arg)	DCP1A (P165R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346212	NM_018403.7(DCP1A):c.1015A>G (p.Ser339Gly)	DCP1A (S180G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341413	NM_018403.7(DCP1A):c.392G>A (p.Arg131Gln)	DCP1A (R59Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329772	NM_018403.7(DCP1A):c.20C>G (p.Ala7Gly)	DCP1A (A7G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322020	NM_018403.7(DCP1A):c.185C>A (p.Ser62Tyr)	DCP1A (S62Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2311018	NM_018403.7(DCP1A):c.1040C>G (p.Thr347Ser)	DCP1A (T347S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275235	NM_018403.7(DCP1A):c.1093C>T (p.His365Tyr)	DCP1A (H293Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239599	NM_018403.7(DCP1A):c.8C>T (p.Ala3Val)	DCP1A (A3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234187	NM_018403.7(DCP1A):c.1157G>C (p.Gly386Ala)	DCP1A (G265A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808546	GRCh37/hg19 3p21.1(chr3:52783975-53418893)x3	DCP1A, ITIH1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1808533	GRCh37/hg19 3p21.1(chr3:52780509-53418869)x3	DCP1A, ITIH1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1527019	GRCh37/hg19 3p21.1(chr3:52968525-53450333)	DCP1A, PRKCD +3 more	Copy number gain	not specified	GUncertain significance
Select item 770142	NM_018403.7(DCP1A):c.1340C>T (p.Ala447Val)	DCP1A (A288V +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 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 60057	GRCh38/hg38 3p21.1-14.3(chr3:53287477-57025368)x1	ACTR8, ARHGEF3 +53 more	Copy number loss	See cases	GUncertain significance
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 43