ClinVar for Gene (Select 151871) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3273663	NM_138815.4(DPPA2):c.605T>G (p.Leu202Trp)	DPPA2 (L202W)	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 3085593	NM_138815.4(DPPA2):c.176A>G (p.Asn59Ser)	DPPA2 (N59S)	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 3064050	NM_138815.4(DPPA2):c.469G>T (p.Ala157Ser)	DPPA2 (A157S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 2615559	NM_138815.4(DPPA2):c.593A>G (p.Gln198Arg)	DPPA2 (Q198R)	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 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 2567037	NM_138815.4(DPPA2):c.788T>C (p.Leu263Ser)	DPPA2 (L263S)	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 2516247	NM_138815.4(DPPA2):c.425G>C (p.Arg142Thr)	DPPA2 (R142T)	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 2397623	NM_138815.4(DPPA2):c.661G>A (p.Val221Ile)	DPPA2 (V221I)	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 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 2347366	NM_138815.4(DPPA2):c.320T>A (p.Leu107His)	DPPA2 (L107H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2282972	NM_138815.4(DPPA2):c.631G>A (p.Val211Ile)	DPPA2 (V211I)	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 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 929745	NM_138815.4(DPPA2):c.833T>C (p.Leu278Ser)	DPPA2 (L278S)	Single nucleotide variant (missense variant)	Premature ovarian failure	GLikely pathogenic
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 767923	NM_138815.4(DPPA2):c.392G>A (p.Arg131Gln)	DPPA2 (R131Q)	Single nucleotide variant (missense variant)	not provided	GBenign
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
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	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 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 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 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 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 41