18296[HGNC] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 57772	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1	ADAMTS9-AS2, ARL6IP5 +234 more	Copy number loss	See cases	GPathogenic
Select item 144339	GRCh38/hg38 3p14.1-13(chr3:67391006-73414001)x1	ARL6IP5, EBLN2 +142 more	Copy number loss	See cases	GPathogenic
Select item 151504	GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3	ARL6IP5, CNTN3 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 57773	GRCh38/hg38 3p13-12.3(chr3:70296167-74865078)x1	LOC129937044, LOC129937045 +110 more	Copy number loss	See cases	GPathogenic
Select item 154582	GRCh38/hg38 3p13-12.3(chr3:71317346-74324671)x1	LOC115995512, LOC121009679 +94 more	Copy number loss	See cases	GPathogenic
Select item 2275489	NM_174907.4(PPP4R2):c.193C>T (p.Pro65Ser)	PPP4R2 (P27S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284792	NM_174907.4(PPP4R2):c.313T>A (p.Cys105Ser)	PPP4R2 (C105S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086874	NM_018029.4(EBLN2):c.43A>C (p.Ser15Arg)	EBLN2, PPP4R2 (S15R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086868	NM_018029.4(EBLN2):c.109A>G (p.Ile37Val)	EBLN2, PPP4R2 (I37V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508965	NM_018029.4(EBLN2):c.148C>T (p.His50Tyr)	EBLN2, PPP4R2 (H50Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086869	NM_018029.4(EBLN2):c.167A>G (p.Gln56Arg)	EBLN2, PPP4R2 (Q56R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343291	NM_018029.4(EBLN2):c.169C>G (p.Pro57Ala)	EBLN2, PPP4R2 (P57A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558437	NM_018029.4(EBLN2):c.172A>G (p.Ser58Gly)	EBLN2, PPP4R2 (S58G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264767	NM_018029.4(EBLN2):c.187G>T (p.Asp63Tyr)	EBLN2, PPP4R2 (D63Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620260	NM_018029.4(EBLN2):c.289A>G (p.Ile97Val)	EBLN2, PPP4R2 (I97V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380792	NM_018029.4(EBLN2):c.298A>C (p.Ile100Leu)	EBLN2, PPP4R2 (I100L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339875	NM_018029.4(EBLN2):c.320C>T (p.Ala107Val)	EBLN2, PPP4R2 (A107V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086870	NM_018029.4(EBLN2):c.374G>A (p.Ser125Asn)	EBLN2, PPP4R2 (S125N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086871	NM_018029.4(EBLN2):c.389G>A (p.Cys130Tyr)	EBLN2, PPP4R2 (C130Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086872	NM_018029.4(EBLN2):c.392T>A (p.Phe131Tyr)	EBLN2, PPP4R2 (F131Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292182	NM_018029.4(EBLN2):c.399T>A (p.Phe133Leu)	EBLN2, PPP4R2 (F133L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086873	NM_018029.4(EBLN2):c.419T>C (p.Leu140Ser)	EBLN2, PPP4R2 (L140S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313973	NM_018029.4(EBLN2):c.431G>A (p.Gly144Asp)	EBLN2, PPP4R2 (G144D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086875	NM_018029.4(EBLN2):c.478A>G (p.Arg160Gly)	EBLN2, PPP4R2 (R160G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274368	NM_018029.4(EBLN2):c.494C>G (p.Ala165Gly)	EBLN2, PPP4R2 (A165G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411323	NM_018029.4(EBLN2):c.523A>G (p.Ile175Val)	EBLN2, PPP4R2 (I175V)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3086877	NM_018029.4(EBLN2):c.527C>G (p.Ala176Gly)	EBLN2, PPP4R2 (A176G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298333	NM_018029.4(EBLN2):c.544G>C (p.Val182Leu)	EBLN2, PPP4R2 (V182L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086878	NM_018029.4(EBLN2):c.550C>T (p.Arg184Cys)	EBLN2, PPP4R2 (R184C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460745	NM_018029.4(EBLN2):c.593G>T (p.Ser198Ile)	EBLN2, PPP4R2 (S198I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396760	NM_018029.4(EBLN2):c.655A>G (p.Ile219Val)	EBLN2, PPP4R2 (I219V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274367	NM_018029.4(EBLN2):c.749G>T (p.Gly250Val)	EBLN2, PPP4R2 (G250V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515105	NM_018029.4(EBLN2):c.800A>G (p.Lys267Arg)	EBLN2, PPP4R2 (K267R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400428	NM_018029.4(EBLN2):c.806G>A (p.Arg269His)	EBLN2, PPP4R2 (R269H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323574	NM_018029.4(EBLN2):c.814A>C (p.Ser272Arg)	EBLN2, PPP4R2 (S272R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266205	NM_174907.4(PPP4R2):c.430T>C (p.Ser144Pro)	PPP4R2 (S87P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270034	NM_174907.4(PPP4R2):c.503T>C (p.Ile168Thr)	PPP4R2 (I168T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309538	NM_174907.4(PPP4R2):c.658T>C (p.Ser220Pro)	PPP4R2 (S49P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239638	NM_174907.4(PPP4R2):c.665T>G (p.Val222Gly)	PPP4R2 (V165G +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2480544	NM_174907.4(PPP4R2):c.679C>T (p.Pro227Ser)	PPP4R2 (P189S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309540	NM_174907.4(PPP4R2):c.790A>G (p.Thr264Ala)	PPP4R2 (T226A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297027	NM_174907.4(PPP4R2):c.833C>T (p.Ala278Val)	PPP4R2 (A221V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508406	NM_174907.4(PPP4R2):c.868C>T (p.Arg290Cys)	PPP4R2 (R119C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549956	NM_174907.4(PPP4R2):c.878G>A (p.Arg293Gln)	PPP4R2 (R122Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309541	NM_174907.4(PPP4R2):c.955A>C (p.Ile319Leu)	PPP4R2 (I148L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309539	NM_174907.4(PPP4R2):c.964A>G (p.Arg322Gly)	PPP4R2 (R151G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217839	NM_174907.4(PPP4R2):c.1028A>T (p.Asn343Ile)	PPP4R2 (N172I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309542	NM_174907.4(PPP4R2):c.1034A>G (p.Gln345Arg)	PPP4R2 (Q307R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217840	NM_174907.4(PPP4R2):c.1133G>A (p.Arg378His)	PPP4R2 (R340H +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2378446	NM_174907.4(PPP4R2):c.1139C>G (p.Thr380Arg)	PPP4R2 (T209R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362414	NM_174907.4(PPP4R2):c.1150G>C (p.Val384Leu)	PPP4R2 (V327L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217842	NM_174907.4(PPP4R2):c.1151T>G (p.Val384Gly)	PPP4R2 (V213G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257009	NM_174907.4(PPP4R2):c.1179G>C (p.Glu393Asp)	PPP4R2 (E336D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217843	NM_174907.4(PPP4R2):c.1180A>G (p.Ile394Val)	PPP4R2 (I337V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248180	NM_174907.4(PPP4R2):c.1196C>T (p.Ser399Phe)	PPP4R2 (S361F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551545	NM_174907.4(PPP4R2):c.1240A>G (p.Met414Val)	PPP4R2 (M376V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676304	GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3	ARL13B, ARL6 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 980499	GRCh37/hg19 3p13-12.3(chr3:70938608-74660846)x3	CNTN3, EBLN2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 562781	GRCh37/hg19 3p14.1-12.3(chr3:66133719-75076440)x1	ARL6IP5, CNTN3 +22 more	Copy number loss	not provided	GPathogenic
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 441945	GRCh37/hg19 3p13-12.3(chr3:70433832-77012164)x1	RYBP, SHQ1 +13 more	Copy number loss	See cases	GPathogenic
Select item 394175	GRCh37/hg19 3p13-12.3(chr3:70127345-74508912)x3	CNTN3, EBLN2 +10 more	Copy number gain	See cases	GUncertain significance

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Items: 64