SV2C[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 3045761	NM_014979.4(SV2C):c.31C>T (p.Leu11=)	SV2C	Single nucleotide variant (synonymous variant)	SV2C-related disorder	GLikely benign
Select item 2265194	NM_014979.4(SV2C):c.88G>A (p.Val30Met)	SV2C (V30M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172340	NM_014979.4(SV2C):c.117T>A (p.Asp39Glu)	SV2C (D39E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323317	NM_014979.4(SV2C):c.145T>C (p.Phe49Leu)	SV2C (F49L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265381	NM_014979.4(SV2C):c.202G>A (p.Glu68Lys)	SV2C (E68K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172347	NM_014979.4(SV2C):c.284G>A (p.Gly95Asp)	SV2C (G95D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172348	NM_014979.4(SV2C):c.305C>G (p.Ala102Gly)	SV2C (A102G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2268235	NM_014979.4(SV2C):c.305C>T (p.Ala102Val)	SV2C (A102V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060767	NM_014979.4(SV2C):c.360G>A (p.Arg120=)	SV2C	Single nucleotide variant (synonymous variant)	SV2C-related disorder	GBenign
Select item 3048954	NM_014979.4(SV2C):c.361C>T (p.Arg121Trp)	SV2C (R121W)	Single nucleotide variant (missense variant)	SV2C-related disorder	GLikely benign
Select item 2513647	NM_014979.4(SV2C):c.469G>A (p.Val157Ile)	SV2C (V157I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777396	NM_014979.4(SV2C):c.495C>T (p.Asp165=)	SV2C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3038438	NM_014979.4(SV2C):c.499G>A (p.Val167Ile)	SV2C (V167I)	Single nucleotide variant (missense variant)	SV2C-related disorder	GLikely benign
Select item 2390523	NM_014979.4(SV2C):c.514G>A (p.Val172Ile)	SV2C (V172I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045731	NM_014979.4(SV2C):c.549C>T (p.Leu183=)	SV2C	Single nucleotide variant (synonymous variant)	SV2C-related disorder	GLikely benign
Select item 2261095	NM_014979.4(SV2C):c.572G>C (p.Gly191Ala)	SV2C (G191A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714993	NM_014979.4(SV2C):c.580+9G>A	SV2C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2544806	NM_014979.4(SV2C):c.596T>A (p.Leu199His)	SV2C (L199H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321891	NM_014979.4(SV2C):c.629G>A (p.Gly210Glu)	SV2C (G210E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240469	NM_014979.4(SV2C):c.713T>C (p.Val238Ala)	SV2C (V238A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251160	NM_014979.4(SV2C):c.764T>C (p.Ile255Thr)	SV2C (I255T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614576	NM_014979.4(SV2C):c.815G>A (p.Arg272Gln)	SV2C (R272Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048043	NM_014979.4(SV2C):c.876C>T (p.Tyr292=)	SV2C	Single nucleotide variant (synonymous variant)	SV2C-related disorder	GLikely benign
Select item 3172349	NM_014979.4(SV2C):c.878C>T (p.Ala293Val)	SV2C (A293V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172350	NM_014979.4(SV2C):c.898A>G (p.Ile300Val)	SV2C (I300V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051777	NM_014979.4(SV2C):c.906G>A (p.Pro302=)	SV2C	Single nucleotide variant (synonymous variant)	SV2C-related disorder	GLikely benign
Select item 2618128	NM_014979.4(SV2C):c.961G>C (p.Val321Leu)	SV2C (V321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655546	NM_014979.4(SV2C):c.995C>T (p.Ser332Phe)	SV2C (S332F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2456124	NM_014979.4(SV2C):c.1034G>A (p.Arg345Gln)	SV2C (R345Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492386	NM_014979.4(SV2C):c.1138G>A (p.Val380Ile)	SV2C (V380I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315145	NM_014979.4(SV2C):c.1231C>T (p.Arg411Cys)	SV2C (R411C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049678	NM_014979.4(SV2C):c.1232G>A (p.Arg411His)	SV2C (R411H)	Single nucleotide variant (missense variant)	SV2C-related disorder	GBenign
Select item 3172341	NM_014979.4(SV2C):c.1237G>A (p.Glu413Lys)	SV2C (E413K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172342	NM_014979.4(SV2C):c.1261T>A (p.Phe421Ile)	SV2C (F421I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491806	NM_014979.4(SV2C):c.1352C>A (p.Ser451Tyr)	LOC126807426, SV2C (S451Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172343	NM_014979.4(SV2C):c.1358G>T (p.Trp453Leu)	LOC126807426, SV2C (W453L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059133	NM_014979.4(SV2C):c.1445C>G (p.Thr482Ser)	LOC126807426, SV2C (T482S)	Single nucleotide variant (missense variant)	SV2C-related disorder	GBenign
Select item 2391949	NM_014979.4(SV2C):c.1508T>C (p.Ile503Thr)	SV2C (I503T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602603	NM_014979.4(SV2C):c.1513G>A (p.Val505Ile)	SV2C (V505I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060811	NM_014979.4(SV2C):c.1627G>A (p.Asp543Asn)	SV2C (D543N)	Single nucleotide variant (missense variant)	SV2C-related disorder	GBenign
Select item 2220361	NM_014979.4(SV2C):c.1648T>C (p.Tyr550His)	SV2C (Y550H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507939	NM_014979.4(SV2C):c.1660G>A (p.Asp554Asn)	SV2C (D554N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408333	NM_014979.4(SV2C):c.1700C>T (p.Thr567Met)	SV2C (T567M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786058	NM_014979.4(SV2C):c.1701G>A (p.Thr567=)	SV2C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2242550	NM_014979.4(SV2C):c.1706G>A (p.Cys569Tyr)	SV2C (C569Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477912	NM_014979.4(SV2C):c.1733G>T (p.Ser578Ile)	SV2C (S578I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034995	NM_014979.4(SV2C):c.1734T>C (p.Ser578=)	SV2C	Single nucleotide variant (synonymous variant)	SV2C-related disorder	GLikely benign
Select item 2455802	NM_014979.4(SV2C):c.1738T>C (p.Tyr580His)	SV2C (Y580H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551741	NM_014979.4(SV2C):c.1757A>G (p.Asn586Ser)	SV2C (N586S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459864	NM_014979.4(SV2C):c.1825C>T (p.Arg609Cys)	SV2C (R609C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568625	NM_014979.4(SV2C):c.1843G>A (p.Gly615Ser)	SV2C (G615S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622223	NM_014979.4(SV2C):c.1908G>A (p.Met636Ile)	SV2C (M636I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740483	NM_014979.4(SV2C):c.1926G>T (p.Leu642=)	SV2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2341722	NM_014979.4(SV2C):c.1931A>G (p.Asn644Ser)	SV2C (N644S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402199	NM_014979.4(SV2C):c.1991C>T (p.Thr664Ile)	SV2C (T664I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172345	NM_014979.4(SV2C):c.1997G>A (p.Arg666Gln)	SV2C (R666Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338616	NM_014979.4(SV2C):c.2027C>T (p.Ala676Val)	SV2C (A676V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3058197	NM_014979.4(SV2C):c.2028G>A (p.Ala676=)	SV2C	Single nucleotide variant (synonymous variant +1 more)	SV2C-related disorder	GLikely benign
Select item 2274160	NM_014979.4(SV2C):c.2125G>A (p.Val709Met)	SV2C (V709M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172346	NM_014979.4(SV2C):c.2141T>C (p.Val714Ala)	SV2C (V714A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3057159	NM_001297716.2(SV2C):c.2001-5del	SV2C	Deletion (intron variant)	SV2C-related disorder	GBenign
Select item 1808700	GRCh37/hg19 5q13.3(chr5:75327732-75416118)x1	SV2C	Copy number loss	not provided	GUncertain significance
Select item 1527169	GRCh37/hg19 5q13.3(chr5:75367647-75531874)	SV2C	Copy number gain	not specified	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 687378	GRCh37/hg19 5q13.3(chr5:75327560-76140898)x1	F2R, F2RL1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563079	GRCh37/hg19 5q13.3(chr5:75243653-75997611)x1	F2RL2, SV2C +1 more	Copy number loss	not provided	GUncertain significance
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

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Items: 71