ClinVar for Gene (Select 56923) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300182	NM_020167.5(NMUR2):c.1123A>C (p.Thr375Pro)	NMUR2 (T375P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300181	NM_020167.5(NMUR2):c.458G>T (p.Arg153Leu)	NMUR2 (R153L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200876	NM_020167.5(NMUR2):c.809T>C (p.Leu270Pro)	NMUR2 (L270P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200875	NM_020167.5(NMUR2):c.436G>C (p.Val146Leu)	NMUR2 (V146L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200874	NM_020167.5(NMUR2):c.418G>T (p.Val140Phe)	NMUR2 (V140F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200873	NM_020167.5(NMUR2):c.368C>T (p.Thr123Met)	NMUR2 (T123M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200872	NM_020167.5(NMUR2):c.227T>G (p.Met76Arg)	NMUR2 (M76R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200871	NM_020167.5(NMUR2):c.216G>T (p.Gln72His)	NMUR2 (Q72H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200870	NM_020167.5(NMUR2):c.1196G>C (p.Ser399Thr)	NMUR2 (S399T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2655973	NM_020167.5(NMUR2):c.279G>A (p.Leu93=)	NMUR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2597242	NM_020167.5(NMUR2):c.484C>T (p.Arg162Trp)	NMUR2 (R162W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522698	NM_020167.5(NMUR2):c.813T>G (p.Phe271Leu)	NMUR2 (F271L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521554	NM_020167.5(NMUR2):c.371C>T (p.Ala124Val)	NMUR2 (A124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457530	NM_020167.5(NMUR2):c.1154A>G (p.Gln385Arg)	NMUR2 (Q385R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412093	NM_020167.5(NMUR2):c.182T>C (p.Ile61Thr)	NMUR2 (I61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395808	NM_020167.5(NMUR2):c.353G>A (p.Gly118Asp)	NMUR2 (G118D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265959	NM_020167.5(NMUR2):c.386T>C (p.Val129Ala)	NMUR2 (V129A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249591	NM_020167.5(NMUR2):c.122G>C (p.Arg41Pro)	NMUR2 (R41P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246938	NM_020167.5(NMUR2):c.781C>A (p.Pro261Thr)	NMUR2 (P261T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238869	NM_020167.5(NMUR2):c.997C>T (p.Arg333Cys)	NMUR2 (R333C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204099	NM_020167.5(NMUR2):c.925C>T (p.His309Tyr)	NMUR2 (H309Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203775	NM_020167.5(NMUR2):c.1102G>C (p.Glu368Gln)	NMUR2 (E368Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 980746	GRCh37/hg19 5q33.1(chr5:151532654-151961446)x3	NMUR2	Copy number gain	not provided	GUncertain significance
Select item 980745	GRCh37/hg19 5q33.1(chr5:151718918-152279323)x1	NMUR2	Copy number loss	not provided	GUncertain significance
Select item 814752	GRCh37/hg19 5q33.1(chr5:151729453-152279338)x3	NMUR2	Copy number gain	not provided	GUncertain significance
Select item 780588	NM_020167.5(NMUR2):c.816C>T (p.Val272=)	NMUR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777808	NM_020167.5(NMUR2):c.972C>A (p.Pro324=)	NMUR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 764859	NM_020167.5(NMUR2):c.454_458del (p.Phe152fs)	NMUR2 (F152fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 764858	NM_020167.5(NMUR2):c.463A>G (p.Lys155Glu)	NMUR2 (K155E)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 563113	GRCh37/hg19 5q33.1(chr5:151777900-151874991)x1	NMUR2	Copy number loss	not provided	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	AFF4, C5orf46 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 42