ClinVar for Gene (Select 145376) - ClinVar

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

Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338219	NM_172365.3(PPP1R36):c.270-1G>C	PPP1R36	Single nucleotide variant (splice acceptor variant)	Autism	GUncertain significance
Select item 3309437	NM_172365.3(PPP1R36):c.230C>G (p.Ala77Gly)	PPP1R36 (A77G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309436	NM_172365.3(PPP1R36):c.713C>A (p.Ser238Tyr)	PPP1R36 (S238Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309434	NM_172365.3(PPP1R36):c.1262C>T (p.Pro421Leu)	PPP1R36 (P421L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309433	NM_172365.3(PPP1R36):c.656T>G (p.Met219Arg)	PPP1R36 (M219R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217622	NM_172365.3(PPP1R36):c.835C>T (p.Arg279Cys)	PPP1R36 (R279C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217621	NM_172365.3(PPP1R36):c.733T>C (p.Tyr245His)	PPP1R36 (Y245H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217620	NM_172365.3(PPP1R36):c.623T>C (p.Val208Ala)	PPP1R36 (V208A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217619	NM_172365.3(PPP1R36):c.578T>C (p.Leu193Ser)	PPP1R36 (L193S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217618	NM_172365.3(PPP1R36):c.461T>C (p.Met154Thr)	PPP1R36 (M154T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217616	NM_172365.3(PPP1R36):c.118A>G (p.Thr40Ala)	PPP1R36 (T40A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217614	NM_172365.3(PPP1R36):c.1060C>G (p.Leu354Val)	PPP1R36 (L354V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 2606543	NM_172365.3(PPP1R36):c.254G>A (p.Gly85Asp)	PPP1R36 (G85D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599427	NM_172365.3(PPP1R36):c.535G>A (p.Gly179Ser)	PPP1R36 (G179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588554	NM_172365.3(PPP1R36):c.37C>G (p.Arg13Gly)	LOC130055838, PPP1R36 (R13G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523960	NM_172365.3(PPP1R36):c.1081G>C (p.Val361Leu)	PPP1R36 (V361L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463524	NM_172365.3(PPP1R36):c.1040T>C (p.Met347Thr)	PPP1R36 (M347T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408094	NM_172365.3(PPP1R36):c.232G>T (p.Val78Phe)	PPP1R36 (V78F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406340	NM_172365.3(PPP1R36):c.119C>A (p.Thr40Asn)	PPP1R36 (T40N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406339	NM_172365.3(PPP1R36):c.118A>T (p.Thr40Ser)	PPP1R36 (T40S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395698	NM_172365.3(PPP1R36):c.1127C>T (p.Thr376Met)	PPP1R36 (T376M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385288	NM_172365.3(PPP1R36):c.868C>T (p.Arg290Cys)	PPP1R36 (R290C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378540	NM_172365.3(PPP1R36):c.920A>C (p.Lys307Thr)	PPP1R36 (K307T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369813	NM_172365.3(PPP1R36):c.431T>C (p.Met144Thr)	PPP1R36 (M144T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368295	NM_172365.3(PPP1R36):c.142G>A (p.Ala48Thr)	PPP1R36 (A48T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2356181	NM_172365.3(PPP1R36):c.5A>G (p.Tyr2Cys)	LOC130055838, PPP1R36 (Y2C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341416	NM_172365.3(PPP1R36):c.529A>G (p.Met177Val)	PPP1R36 (M177V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311591	NM_172365.3(PPP1R36):c.374C>T (p.Thr125Ile)	PPP1R36 (T125I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291650	NM_172365.3(PPP1R36):c.224G>A (p.Gly75Asp)	PPP1R36 (G75D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213592	NM_172365.3(PPP1R36):c.437A>C (p.Asn146Thr)	PPP1R36 (N146T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213342	NM_172365.3(PPP1R36):c.1094T>C (p.Leu365Ser)	PPP1R36 (L365S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1706498	GRCh37/hg19 14q23.2-23.3(chr14:64016496-65834490)x3	AKAP5, CHURC1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 980604	GRCh37/hg19 14q23.1-23.3(chr14:61409856-65742610)x3	FNTB, AKAP5 +29 more	Copy number gain	not provided	GLikely pathogenic
Select item 776846	NM_172365.3(PPP1R36):c.1119C>T (p.Asn373=)	PPP1R36	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776845	NM_172365.3(PPP1R36):c.223G>T (p.Gly75Cys)	PPP1R36 (G75C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710223	NM_172365.3(PPP1R36):c.92T>A (p.Met31Lys)	PPP1R36 (M31K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 149197	GRCh38/hg38 14q23.2-23.3(chr14:62252700-65753416)x1	AKAP5, CHURC1 +130 more	Copy number loss	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	LOC132090233, LOC132090234 +264 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: 47