ClinVar for Gene (Select 222643) - ClinVar

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

Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3331071	NM_173561.3(UNC5CL):c.1031T>C (p.Phe344Ser)	UNC5CL (F344S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331070	NM_173561.3(UNC5CL):c.157G>A (p.Val53Met)	UNC5CL (V53M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331069	NM_173561.3(UNC5CL):c.1250G>A (p.Arg417Gln)	UNC5CL (R417Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3331068	NM_173561.3(UNC5CL):c.391G>A (p.Val131Met)	UNC5CL (V131M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 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: 42