ClinVar for Gene (Select 55010) - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3215791	NM_002674.4(PMCH):c.462G>T (p.Met154Ile)	PARPBP, PMCH (M154I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208844	NM_017915.5(PARPBP):c.854A>G (p.Lys285Arg)	PARPBP (K283R +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208843	NM_017915.5(PARPBP):c.812C>A (p.Pro271Gln)	PARPBP (P133Q +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208842	NM_017915.5(PARPBP):c.651A>C (p.Gln217His)	PARPBP (Q181H +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3208840	NM_017915.5(PARPBP):c.346G>T (p.Ala116Ser)	PARPBP (A35S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208839	NM_017915.5(PARPBP):c.272T>C (p.Val91Ala)	PARPBP (V10A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208838	NM_017915.5(PARPBP):c.262T>A (p.Tyr88Asn)	PARPBP (Y7N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208837	NM_017915.5(PARPBP):c.1721C>T (p.Thr574Ile)	PARPBP (T372I +20 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208836	NM_017915.5(PARPBP):c.1696T>G (p.Leu566Val)	PARPBP (L364V +20 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208835	NM_017915.5(PARPBP):c.1663G>A (p.Ala555Thr)	PARPBP (A320T +20 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208834	NM_017915.5(PARPBP):c.1582C>T (p.Pro528Ser)	PARPBP (P269S +20 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3208832	NM_017915.5(PARPBP):c.1571A>G (p.Asn524Ser)	PARPBP (N346S +20 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208831	NM_017915.5(PARPBP):c.1439C>T (p.Thr480Met)	PARPBP (T281M +20 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063248	GRCh37/hg19 12q23.2(chr12:102012266-102738384)x3	CHPT1, DRAM1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063229	GRCh37/hg19 12q23.2(chr12:102488445-102583644)x1	NUP37, PARPBP	Copy number loss	not specified	GUncertain significance
Select item 2643244	NM_017915.5(PARPBP):c.327T>C (p.Asp109=)	PARPBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2622762	NM_017915.5(PARPBP):c.1493A>G (p.Lys498Arg)	PARPBP (K239R +20 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598893	NM_017915.5(PARPBP):c.137C>T (p.Ala46Val)	PARPBP (A46V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2591002	NM_017915.5(PARPBP):c.311T>C (p.Met104Thr)	PARPBP (M23T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559265	NM_017915.5(PARPBP):c.568G>A (p.Val190Met)	PARPBP (V112M +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2555172	NM_017915.5(PARPBP):c.1476T>A (p.Asn492Lys)	PARPBP (N233K +20 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550424	NM_017915.5(PARPBP):c.583A>G (p.Asn195Asp)	PARPBP (N159D +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2539430	NM_017915.5(PARPBP):c.824T>C (p.Ile275Thr)	PARPBP (I104T +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537753	NM_017915.5(PARPBP):c.857T>A (p.Met286Lys)	PARPBP (M115K +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510872	NM_017915.5(PARPBP):c.792T>A (p.Asp264Glu)	PARPBP (D129E +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509076	NM_017915.5(PARPBP):c.334C>A (p.Gln112Lys)	PARPBP (Q112K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2481441	NM_017915.5(PARPBP):c.118G>T (p.Ala40Ser)	PARPBP (A40S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2481137	NM_017915.5(PARPBP):c.1364C>T (p.Pro455Leu)	PARPBP (P220L +20 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472635	NM_017915.5(PARPBP):c.791A>G (p.Asp264Gly)	PARPBP (D126G +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466326	NM_017915.5(PARPBP):c.95G>A (p.Cys32Tyr)	PARPBP (C32Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2360780	NM_017915.5(PARPBP):c.997C>G (p.Pro333Ala)	PARPBP (P331A +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346332	NM_017915.5(PARPBP):c.1375C>G (p.Leu459Val)	PARPBP (L292V +20 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307278	NM_017915.5(PARPBP):c.1042T>C (p.Cys348Arg)	PARPBP (C177R +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286597	NM_017915.5(PARPBP):c.1608A>G (p.Ile536Met)	PARPBP (I277M +20 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281327	NM_002674.4(PMCH):c.370G>A (p.Glu124Lys)	PARPBP, PMCH (E124K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270868	NM_017915.5(PARPBP):c.1381A>G (p.Met461Val)	PARPBP (M283V +20 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266199	NM_017915.5(PARPBP):c.592G>A (p.Asp198Asn)	PARPBP (D162N +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2238660	NM_017915.5(PARPBP):c.691A>G (p.Ile231Val)	PARPBP (I138V +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235603	NM_017915.5(PARPBP):c.1300A>G (p.Thr434Ala)	PARPBP (T175A +20 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210472	NM_017915.5(PARPBP):c.820A>C (p.Ser274Arg)	PARPBP (S103R +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1527728	GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)	ACTR6, ALDH1L2 +39 more	Copy number gain	not specified	GUncertain significance
Select item 1527727	GRCh37/hg19 12q23.1-23.2(chr12:100564593-103021075)	ACTR6, ANO4 +19 more	Copy number loss	not specified	GUncertain significance
Select item 1340831	GRCh37/hg19 12q23.2(chr12:102583659-102654572)x1	PARPBP, PMCH	Copy number loss	not provided	GLikely benign
Select item 980452	GRCh37/hg19 12q23.2(chr12:102583458-102711311)x1	PARPBP, PMCH	Copy number loss	not provided	GUncertain significance
Select item 815550	GRCh37/hg19 12q23.2(chr12:101953283-102683945)x1	PARPBP, CHPT1 +7 more	Copy number loss	not provided	GUncertain significance
Select item 710175	NM_002674.4(PMCH):c.399G>T (p.Gly133=)	PARPBP, PMCH	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 687657	GRCh37/hg19 12q23.2(chr12:102116591-102607083)x3	CHPT1, DRAM1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 686626	GRCh37/hg19 12q23.1-23.2(chr12:101447925-102593349)x3	ANO4, ARL1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 685970	GRCh37/hg19 12q23.2-23.3(chr12:102414522-105845768)x1	TXNRD1, UQCC6 +23 more	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 151182	GRCh38/hg38 12q23.2(chr12:102123861-102457250)x1	IGF1, LINC02456 +10 more	Copy number loss	See cases	GLikely benign
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 55