ClinVar for Gene (Select 222643) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3186630	NM_173561.3(UNC5CL):c.826G>A (p.Ala276Thr)	UNC5CL (A276T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186629	NM_173561.3(UNC5CL):c.818C>T (p.Thr273Met)	UNC5CL (T273M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186628	NM_173561.3(UNC5CL):c.662G>C (p.Cys221Ser)	UNC5CL (C221S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186627	NM_173561.3(UNC5CL):c.38T>C (p.Phe13Ser)	UNC5CL (F13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186626	NM_173561.3(UNC5CL):c.1442T>C (p.Leu481Pro)	UNC5CL (L481P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186625	NM_173561.3(UNC5CL):c.1333C>T (p.Arg445Trp)	UNC5CL (R445W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186624	NM_173561.3(UNC5CL):c.1238T>C (p.Phe413Ser)	UNC5CL (F413S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2615932	NM_173561.3(UNC5CL):c.1502C>A (p.Pro501His)	UNC5CL (P501H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612081	NM_173561.3(UNC5CL):c.274A>G (p.Met92Val)	UNC5CL (M92V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2594980	NM_173561.3(UNC5CL):c.40C>G (p.Leu14Val)	UNC5CL (L14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477434	NM_173561.3(UNC5CL):c.515C>G (p.Ser172Cys)	UNC5CL (S172C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461591	NM_173561.3(UNC5CL):c.124G>T (p.Ala42Ser)	UNC5CL (A42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454326	NM_173561.3(UNC5CL):c.578C>A (p.Thr193Asn)	UNC5CL (T193N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394654	NM_173561.3(UNC5CL):c.1184C>T (p.Ala395Val)	UNC5CL (A395V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391704	NM_173561.3(UNC5CL):c.1024C>T (p.Arg342Cys)	UNC5CL (R342C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380713	NM_173561.3(UNC5CL):c.575G>A (p.Arg192His)	UNC5CL (R192H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374826	NM_173561.3(UNC5CL):c.1448G>A (p.Cys483Tyr)	UNC5CL (C483Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374468	NM_173561.3(UNC5CL):c.797G>A (p.Arg266His)	UNC5CL (R266H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367807	NM_173561.3(UNC5CL):c.1039C>T (p.Arg347Trp)	UNC5CL (R347W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353331	NM_173561.3(UNC5CL):c.1304C>T (p.Ser435Phe)	UNC5CL (S435F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347150	NM_173561.3(UNC5CL):c.493G>T (p.Ala165Ser)	UNC5CL (A165S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345955	NM_173561.3(UNC5CL):c.869G>A (p.Arg290His)	UNC5CL (R290H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332122	NM_173561.3(UNC5CL):c.1205C>A (p.Pro402Gln)	UNC5CL (P402Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330200	NM_173561.3(UNC5CL):c.229G>C (p.Val77Leu)	UNC5CL (V77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328232	NM_173561.3(UNC5CL):c.1249C>T (p.Arg417Trp)	UNC5CL (R417W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316472	NM_173561.3(UNC5CL):c.653G>A (p.Arg218Gln)	UNC5CL (R218Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285791	NM_173561.3(UNC5CL):c.1025G>T (p.Arg342Leu)	UNC5CL (R342L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280105	NM_173561.3(UNC5CL):c.70G>T (p.Val24Phe)	UNC5CL (V24F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250120	NM_173561.3(UNC5CL):c.784C>G (p.His262Asp)	UNC5CL (H262D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223216	NM_173561.3(UNC5CL):c.1485C>G (p.His495Gln)	UNC5CL (H495Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2217458	NM_173561.3(UNC5CL):c.143G>T (p.Gly48Val)	UNC5CL (G48V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205667	NM_173561.3(UNC5CL):c.730C>T (p.Arg244Cys)	UNC5CL (R244C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	HCG26, HCG27 +2581 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 38