ClinVar for Gene (Select 116064) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3291707	NM_001099678.2(LRRC58):c.1013C>G (p.Pro338Arg)	LRRC58 (P338R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291706	NM_001099678.2(LRRC58):c.241A>G (p.Thr81Ala)	LRRC58 (T81A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120835	NM_001099678.2(LRRC58):c.403G>A (p.Val135Met)	LRRC58 (V135M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120834	NM_001099678.2(LRRC58):c.356G>A (p.Cys119Tyr)	LRRC58 (C119Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120833	NM_001099678.2(LRRC58):c.283A>G (p.Thr95Ala)	LRRC58 (T95A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654060	NM_001099678.2(LRRC58):c.506A>G (p.Glu169Gly)	LRRC58 (E169G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2600071	NM_001099678.2(LRRC58):c.812A>T (p.Lys271Met)	LRRC58 (K271M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598267	NM_001099678.2(LRRC58):c.350C>G (p.Pro117Arg)	LRRC58 (P117R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591447	NM_001099678.2(LRRC58):c.695T>C (p.Leu232Pro)	LRRC58 (L232P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2543744	NM_001099678.2(LRRC58):c.266C>T (p.Ala89Val)	LRRC58 (A89V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543414	NM_001099678.2(LRRC58):c.1024G>T (p.Ala342Ser)	LRRC58 (A342S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475622	NM_001099678.2(LRRC58):c.310G>C (p.Gly104Arg)	LRRC58 (G104R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473041	NM_001099678.2(LRRC58):c.106G>A (p.Gly36Arg)	LOC129937335, LRRC58 (G36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465320	NM_001099678.2(LRRC58):c.457A>T (p.Asn153Tyr)	LRRC58 (N153Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400842	NM_001099678.2(LRRC58):c.212A>G (p.Gln71Arg)	LOC129937335, LRRC58 (Q71R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394888	NM_001099678.2(LRRC58):c.29C>T (p.Thr10Met)	LOC129937335, LRRC58 (T10M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383579	NM_001099678.2(LRRC58):c.116G>C (p.Arg39Pro)	LOC129937335, LRRC58 (R39P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331762	NM_001099678.2(LRRC58):c.431C>A (p.Ala144Glu)	LRRC58 (A144E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328207	NM_001099678.2(LRRC58):c.154C>T (p.Pro52Ser)	LOC129937335, LRRC58 (P52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303652	NM_001099678.2(LRRC58):c.40G>A (p.Ala14Thr)	LOC129937335, LRRC58 (A14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300263	NM_001099678.2(LRRC58):c.1028C>G (p.Ser343Cys)	LRRC58 (S343C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296419	NM_001099678.2(LRRC58):c.712G>A (p.Glu238Lys)	LRRC58 (E238K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241492	NM_001099678.2(LRRC58):c.728G>A (p.Arg243Gln)	LRRC58 (R243Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232269	NM_001099678.2(LRRC58):c.319A>G (p.Ser107Gly)	LRRC58 (S107G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2230919	NM_001099678.2(LRRC58):c.1007C>T (p.Ser336Phe)	LRRC58 (S336F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226120	NM_001099678.2(LRRC58):c.1088G>A (p.Arg363His)	LRRC58 (R363H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2224761	NM_001099678.2(LRRC58):c.220G>A (p.Asp74Asn)	LOC129937335, LRRC58 (D74N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808592	GRCh37/hg19 3q13.31-13.33(chr3:116109191-120328013)x1	ADPRH, ARHGAP31 +20 more	Copy number loss	not provided	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527039	GRCh37/hg19 3q13.33(chr3:119844770-120822965)	FSTL1, GPR156 +6 more	Copy number gain	not specified	GUncertain significance
Select item 980052	GRCh37/hg19 3q13.33(chr3:120043207-120255384)x3	FSTL1, LRRC58	Copy number gain	not provided	GLikely benign
Select item 562810	GRCh37/hg19 3q13.33(chr3:119968036-120460741)x3	LRRC58, FSTL1 +3 more	Copy number gain	not provided	GLikely benign
Select item 562809	GRCh37/hg19 3q13.31-21.1(chr3:115518341-122129283)x1	HCLS1, ARGFX +38 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 253332	GRCh37/hg19 3q13.33-21.1(chr3:119749810-122459323)x3	IQCB1, FAM162A +28 more	Copy number gain	See cases	GLikely pathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 154810	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4	ADPRH, ARHGAP31 +101 more	Copy number gain	See cases	GUncertain significance
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 146711	GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1	LOC129937337, LOC129937338 +199 more	Copy number loss	See cases	GPathogenic
Select item 146286	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120797026)x4	ADPRH, ARHGAP31 +100 more	Copy number gain	See cases	GUncertain significance
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 145353	GRCh38/hg38 3q13.33(chr3:120286468-121375425)x3	FSTL1, GTF2E1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 48