DPPA2[gene] - ClinVar

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Items: 41

	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 57243	GRCh38/hg38 3q13.11-13.13(chr3:103692220-109605902)x1	LOC129389108, LOC129389109 +89 more	Copy number loss	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 929745	NM_138815.4(DPPA2):c.833T>C (p.Leu278Ser)	DPPA2 (L278S)	Single nucleotide variant (missense variant)	Premature ovarian failure	GLikely pathogenic
Select item 2567037	NM_138815.4(DPPA2):c.788T>C (p.Leu263Ser)	DPPA2 (L263S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273664	NM_138815.4(DPPA2):c.737G>T (p.Gly246Val)	DPPA2 (G246V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613217	NM_138815.4(DPPA2):c.728T>C (p.Phe243Ser)	DPPA2 (F243S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085594	NM_138815.4(DPPA2):c.719G>A (p.Arg240His)	DPPA2 (R240H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397623	NM_138815.4(DPPA2):c.661G>A (p.Val221Ile)	DPPA2 (V221I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282972	NM_138815.4(DPPA2):c.631G>A (p.Val211Ile)	DPPA2 (V211I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273663	NM_138815.4(DPPA2):c.605T>G (p.Leu202Trp)	DPPA2 (L202W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615559	NM_138815.4(DPPA2):c.593A>G (p.Gln198Arg)	DPPA2 (Q198R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524567	NM_138815.4(DPPA2):c.562T>A (p.Ser188Thr)	DPPA2 (S188T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064049	NM_138815.4(DPPA2):c.554T>C (p.Met185Thr)	DPPA2 (M185T)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3064050	NM_138815.4(DPPA2):c.469G>T (p.Ala157Ser)	DPPA2 (A157S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2330037	NM_138815.4(DPPA2):c.434G>A (p.Arg145Gln)	DPPA2 (R145Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516247	NM_138815.4(DPPA2):c.425G>C (p.Arg142Thr)	DPPA2 (R142T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249640	NM_138815.4(DPPA2):c.409A>T (p.Met137Leu)	DPPA2 (M137L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767923	NM_138815.4(DPPA2):c.392G>A (p.Arg131Gln)	DPPA2 (R131Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2347366	NM_138815.4(DPPA2):c.320T>A (p.Leu107His)	DPPA2 (L107H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491376	NM_138815.4(DPPA2):c.184C>T (p.His62Tyr)	DPPA2 (H62Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085593	NM_138815.4(DPPA2):c.176A>G (p.Asn59Ser)	DPPA2 (N59S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377429	NM_138815.4(DPPA2):c.130G>A (p.Val44Ile)	DPPA2 (V44I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085592	NM_138815.4(DPPA2):c.120G>A (p.Met40Ile)	DPPA2 (M40I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374477	NM_138815.4(DPPA2):c.110T>A (p.Met37Lys)	DPPA2 (M37K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350454	NM_138815.4(DPPA2):c.4T>A (p.Ser2Thr)	DPPA2 (S2T)	Single nucleotide variant (missense variant)	not specified	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 562803	GRCh37/hg19 3q13.13(chr3:108597544-109019701)x3	MORC1, MORC1-AS1 +2 more	Copy number gain	not provided	GLikely benign
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	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
Select item 226150	GRCh37/hg19 3q13.13(chr3:108616806-109014594)	MORC1-AS1, MORC1 +2 more	Copy number gain	Abnormal esophagus morphology	GLikely benign

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Items: 41