ClinVar for Gene (Select 727936) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283200	NM_001080393.2(GXYLT2):c.787T>G (p.Ser263Ala)	GXYLT2 (S263A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283199	NM_001080393.2(GXYLT2):c.982C>T (p.Leu328Phe)	GXYLT2 (L328F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283197	NM_001080393.2(GXYLT2):c.164C>T (p.Pro55Leu)	GXYLT2 (P55L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103359	NM_001080393.2(GXYLT2):c.732C>A (p.His244Gln)	GXYLT2 (H244Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103358	NM_001080393.2(GXYLT2):c.46G>T (p.Ala16Ser)	GXYLT2, LOC129937057 (A16S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103356	NM_001080393.2(GXYLT2):c.15C>G (p.Ser5Arg)	GXYLT2, LOC129937057 (S5R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103355	NM_001080393.2(GXYLT2):c.145C>T (p.Pro49Ser)	GXYLT2 (P49S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103354	NM_001080393.2(GXYLT2):c.1166A>G (p.Asn389Ser)	GXYLT2 (N389S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103353	NM_001080393.2(GXYLT2):c.1091G>A (p.Gly364Asp)	GXYLT2 (G364D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103352	NM_001080393.2(GXYLT2):c.1018G>A (p.Asp340Asn)	GXYLT2 (D340N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624125	NM_001080393.2(GXYLT2):c.211C>T (p.Arg71Trp)	GXYLT2, LOC129937058 (R71W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548858	NM_001080393.2(GXYLT2):c.272C>T (p.Ala91Val)	GXYLT2, LOC129937058 (A91V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528385	NM_001080393.2(GXYLT2):c.1280G>C (p.Arg427Thr)	GXYLT2 (R427T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492051	NM_001080393.2(GXYLT2):c.760C>A (p.Arg254Ser)	GXYLT2 (R254S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486604	NM_001080393.2(GXYLT2):c.802T>G (p.Ser268Ala)	GXYLT2 (S268A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477516	NM_001080393.2(GXYLT2):c.145C>A (p.Pro49Thr)	GXYLT2 (P49T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473190	NM_001080393.2(GXYLT2):c.599C>T (p.Pro200Leu)	GXYLT2 (P200L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411582	NM_001080393.2(GXYLT2):c.527C>G (p.Thr176Arg)	GXYLT2 (T176R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400288	NM_001080393.2(GXYLT2):c.746T>C (p.Ile249Thr)	GXYLT2 (I249T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390965	NM_001080393.2(GXYLT2):c.166G>A (p.Gly56Arg)	GXYLT2 (G56R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390717	NM_001080393.2(GXYLT2):c.955A>G (p.Ile319Val)	GXYLT2, LOC121009682 (I319V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385628	NM_001080393.2(GXYLT2):c.97C>G (p.Pro33Ala)	GXYLT2 (P33A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379311	NM_001080393.2(GXYLT2):c.673A>T (p.Ile225Phe)	GXYLT2 (I225F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371709	NM_001080393.2(GXYLT2):c.718A>G (p.Met240Val)	GXYLT2 (M240V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368878	NM_001080393.2(GXYLT2):c.472C>T (p.Arg158Cys)	GXYLT2 (R158C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360877	NM_001080393.2(GXYLT2):c.869C>T (p.Thr290Ile)	GXYLT2 (T290I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344958	NM_001080393.2(GXYLT2):c.328A>C (p.Ile110Leu)	GXYLT2 (I110L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344740	NM_001080393.2(GXYLT2):c.440A>T (p.Asp147Val)	GXYLT2 (D147V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272366	NM_001080393.2(GXYLT2):c.1219C>T (p.His407Tyr)	GXYLT2 (H407Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267059	NM_001080393.2(GXYLT2):c.473G>A (p.Arg158His)	GXYLT2 (R158H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223438	NM_001080393.2(GXYLT2):c.1264G>A (p.Glu422Lys)	GXYLT2 (E422K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221291	NM_001080393.2(GXYLT2):c.701C>G (p.Ser234Cys)	GXYLT2 (S234C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213368	NM_001080393.2(GXYLT2):c.209G>T (p.Arg70Leu)	GXYLT2, LOC129937058 (R70L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207110	NM_001080393.2(GXYLT2):c.1145G>A (p.Arg382Gln)	GXYLT2 (R382Q)	Single nucleotide variant (missense variant +1 more)	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 775201	NM_001080393.2(GXYLT2):c.523A>G (p.Ile175Val)	GXYLT2 (I175V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 767917	NM_001080393.2(GXYLT2):c.528A>G (p.Thr176=)	GXYLT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 562784	GRCh37/hg19 3p13(chr3:72866811-72955847)x1	GXYLT2, SHQ1	Copy number loss	not provided	GLikely benign
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
Select item 154582	GRCh38/hg38 3p13-12.3(chr3:71317346-74324671)x1	LOC115995512, LOC121009679 +94 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 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 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 57773	GRCh38/hg38 3p13-12.3(chr3:70296167-74865078)x1	LOC129937044, LOC129937045 +110 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

ClinVar

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Links from Gene

Items: 50