ClinVar for Gene (Select 57460) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309279	NM_020700.2(PPM1H):c.1471A>G (p.Asn491Asp)	PPM1H (N491D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309277	NM_020700.2(PPM1H):c.742G>A (p.Ala248Thr)	PPM1H (A248T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309276	NM_020700.2(PPM1H):c.118C>G (p.Pro40Ala)	PPM1H (P40A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309275	NM_020700.2(PPM1H):c.685T>G (p.Phe229Val)	PPM1H (F229V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217352	NM_020700.2(PPM1H):c.821T>C (p.Val274Ala)	PPM1H (V274A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217351	NM_020700.2(PPM1H):c.695A>T (p.Glu232Val)	PPM1H (E232V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217350	NM_020700.2(PPM1H):c.52G>C (p.Ala18Pro)	PPM1H (A18P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217349	NM_020700.2(PPM1H):c.316A>G (p.Lys106Glu)	PPM1H (K106E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217348	NM_020700.2(PPM1H):c.1207A>G (p.Asn403Asp)	PPM1H (N403D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217347	NM_020700.2(PPM1H):c.1066A>G (p.Thr356Ala)	PPM1H (T356A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685437	GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	AVPR1A, C12orf56 +40 more	Copy number loss	not provided	GPathogenic
Select item 2609640	NM_020700.2(PPM1H):c.1271A>G (p.Tyr424Cys)	PPM1H (Y424C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569479	NM_020700.2(PPM1H):c.76G>A (p.Gly26Ser)	PPM1H (G26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532394	NM_020700.2(PPM1H):c.887A>G (p.Asn296Ser)	PPM1H (N296S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472637	NM_020700.2(PPM1H):c.935G>A (p.Arg312His)	PPM1H (R312H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472456	NM_020700.2(PPM1H):c.766A>T (p.Ile256Leu)	PPM1H (I256L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464743	NM_020700.2(PPM1H):c.437A>G (p.Tyr146Cys)	PPM1H (Y146C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461324	NM_020700.2(PPM1H):c.1402A>G (p.Thr468Ala)	PPM1H (T468A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460155	NM_020700.2(PPM1H):c.364C>T (p.Arg122Trp)	PPM1H (R122W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406984	NM_020700.2(PPM1H):c.611G>A (p.Arg204Gln)	PPM1H (R204Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377824	NM_020700.2(PPM1H):c.991A>G (p.Thr331Ala)	PPM1H (T331A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357934	NM_020700.2(PPM1H):c.650G>T (p.Gly217Val)	PPM1H (G217V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323791	NM_020700.2(PPM1H):c.1088T>C (p.Ile363Thr)	PPM1H (I363T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320542	NM_020700.2(PPM1H):c.1462C>T (p.Arg488Trp)	PPM1H (R488W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308304	NM_020700.2(PPM1H):c.1409C>T (p.Ala470Val)	PPM1H (A470V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308303	NM_020700.2(PPM1H):c.1408G>T (p.Ala470Ser)	PPM1H (A470S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294887	NM_020700.2(PPM1H):c.1141C>T (p.Arg381Trp)	PPM1H (R381W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279194	NM_020700.2(PPM1H):c.1430G>A (p.Arg477His)	PPM1H (R477H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258417	NM_020700.2(PPM1H):c.410C>T (p.Ser137Leu)	PPM1H (S137L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248877	NM_020700.2(PPM1H):c.124G>C (p.Gly42Arg)	PPM1H (G42R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210748	NM_020700.2(PPM1H):c.94G>A (p.Gly32Ser)	PPM1H (G32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340272	GRCh37/hg19 12q14.2(chr12:63193927-63451878)x3	PPM1H	Copy number gain	not provided	GUncertain significance
Select item 788435	NM_020700.2(PPM1H):c.613A>C (p.Thr205Pro)	PPM1H (T205P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 155591	GRCh38/hg38 12q14.2(chr12:62764381-63470562)x1	AVPR1A, LOC124629390 +8 more	Copy number loss	See cases	GLikely benign
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150076	GRCh38/hg38 12q14.1-14.3(chr12:60907151-66568077)x1	AVPR1A, C12orf56 +144 more	Copy number loss	See cases	GPathogenic
Select item 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic
Select item 58212	GRCh38/hg38 12q14.1-14.2(chr12:60303553-63356583)x3	AVPR1A, LINC01465 +34 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 41