PPP1R16B[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	LOC130065861, LOC130065862 +568 more	Copy number loss	See cases	GPathogenic
Select item 3217532	NM_015568.4(PPP1R16B):c.186G>C (p.Lys62Asn)	PPP1R16B (K62N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249199	NM_015568.4(PPP1R16B):c.211G>A (p.Ala71Thr)	PPP1R16B (A71T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339503	NM_015568.4(PPP1R16B):c.274G>A (p.Val92Ile)	PPP1R16B (V92I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551235	NM_015568.4(PPP1R16B):c.433G>A (p.Gly145Ser)	PPP1R16B (G145S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619785	NM_015568.4(PPP1R16B):c.472G>A (p.Ala158Thr)	PPP1R16B (A158T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275089	NM_015568.4(PPP1R16B):c.475G>A (p.Asp159Asn)	PPP1R16B (D159N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217533	NM_015568.4(PPP1R16B):c.598A>G (p.Met200Val)	PPP1R16B (M200V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217534	NM_015568.4(PPP1R16B):c.674T>C (p.Ile225Thr)	PPP1R16B (I225T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553104	NM_015568.4(PPP1R16B):c.715A>G (p.Asn239Asp)	PPP1R16B (N239D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217535	NM_015568.4(PPP1R16B):c.760C>T (p.Arg254Cys)	PPP1R16B (R254C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217536	NM_015568.4(PPP1R16B):c.895A>G (p.Ile299Val)	PPP1R16B (I257V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217537	NM_015568.4(PPP1R16B):c.926T>C (p.Val309Ala)	PPP1R16B (V309A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217527	NM_015568.4(PPP1R16B):c.1099A>C (p.Ile367Leu)	PPP1R16B (I367L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218171	NM_015568.4(PPP1R16B):c.1172C>T (p.Thr391Ile)	PPP1R16B (T391I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 148535	GRCh38/hg38 20q11.23-12(chr20:38912733-39376861)x1	DHX35, FAM83D +12 more	Copy number loss	See cases	GLikely benign
Select item 2250055	NM_015568.4(PPP1R16B):c.1263C>G (p.Asp421Glu)	PPP1R16B (D379E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217529	NM_015568.4(PPP1R16B):c.1364T>C (p.Met455Thr)	PPP1R16B (M413T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342590	NM_015568.4(PPP1R16B):c.1460G>A (p.Arg487Gln)	PPP1R16B (R487Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454961	NM_015568.4(PPP1R16B):c.1526C>T (p.Thr509Met)	PPP1R16B (T509M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217530	NM_015568.4(PPP1R16B):c.1610A>G (p.Tyr537Cys)	PPP1R16B (Y537C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217531	NM_015568.4(PPP1R16B):c.1613C>T (p.Thr538Met)	PPP1R16B (T538M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326975	NM_015568.4(PPP1R16B):c.1667T>C (p.Met556Thr)	PPP1R16B (M514T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 564625	GRCh37/hg19 20q11.23-12(chr20:37327665-37675011)x3	SLC32A1, FAM83D +3 more	Copy number gain	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	KIF3B, KIZ +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

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Items: 29