GOLIM4[gene] - ClinVar

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

Search results

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +304 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 147458	GRCh38/hg38 3q26.1-26.2(chr3:166831737-170631211)x3	ACTRT3, CLDN11 +101 more	Copy number gain	See cases	GUncertain significance
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 3281964	NM_014498.5(GOLIM4):c.2060C>T (p.Ala687Val)	GOLIM4 (A659V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689142	NM_014498.5(GOLIM4):c.2006G>A (p.Arg669Gln)	GOLIM4 (R641Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2569893	NM_014498.5(GOLIM4):c.1993C>T (p.Arg665Cys)	GOLIM4 (R637C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346139	NM_014498.5(GOLIM4):c.1760A>G (p.Gln587Arg)	GOLIM4 (Q587R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539747	NM_014498.5(GOLIM4):c.1751A>G (p.Asn584Ser)	GOLIM4 (N556S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100945	NM_014498.5(GOLIM4):c.1750A>C (p.Asn584His)	GOLIM4 (N556H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518413	NM_014498.5(GOLIM4):c.1696G>A (p.Glu566Lys)	GOLIM4 (E538K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100944	NM_014498.5(GOLIM4):c.1637A>T (p.Glu546Val)	GOLIM4 (E518V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100943	NM_014498.5(GOLIM4):c.1591C>T (p.Pro531Ser)	GOLIM4 (P531S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281962	NM_014498.5(GOLIM4):c.1570C>A (p.His524Asn)	GOLIM4 (H524N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541839	NM_014498.5(GOLIM4):c.1541A>G (p.Asp514Gly)	GOLIM4 (D486G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454220	NM_014498.5(GOLIM4):c.1537C>G (p.Gln513Glu)	GOLIM4 (Q513E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281963	NM_014498.5(GOLIM4):c.1517A>G (p.Tyr506Cys)	GOLIM4 (Y478C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775922	NM_014498.5(GOLIM4):c.1514-5G>T	GOLIM4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2617480	NM_014498.5(GOLIM4):c.1457T>C (p.Met486Thr)	GOLIM4 (M486T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100942	NM_014498.5(GOLIM4):c.1438C>G (p.Gln480Glu)	GOLIM4 (Q452E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217516	NM_014498.5(GOLIM4):c.1412C>T (p.Pro471Leu)	GOLIM4 (P471L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100941	NM_014498.5(GOLIM4):c.1408C>T (p.Arg470Trp)	GOLIM4 (R442W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775923	NM_014498.5(GOLIM4):c.1358A>G (p.Gln453Arg)	GOLIM4 (Q453R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2558689	NM_014498.5(GOLIM4):c.1322G>T (p.Gly441Val)	GOLIM4 (G413V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791958	NM_014498.5(GOLIM4):c.1177-5C>T	GOLIM4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3100940	NM_014498.5(GOLIM4):c.1172C>A (p.Ala391Asp)	GOLIM4 (A363D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654267	NM_014498.5(GOLIM4):c.1167G>A (p.Ala389=)	GOLIM4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2494259	NM_014498.5(GOLIM4):c.1166C>T (p.Ala389Val)	GOLIM4 (A361V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321649	NM_014498.5(GOLIM4):c.1165G>A (p.Ala389Thr)	GOLIM4 (A361T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621123	NM_014498.5(GOLIM4):c.1138G>A (p.Glu380Lys)	GOLIM4 (E352K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401029	NM_014498.5(GOLIM4):c.1136G>A (p.Arg379Gln)	GOLIM4 (R351Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100939	NM_014498.5(GOLIM4):c.1109G>A (p.Arg370Gln)	GOLIM4 (R342Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352946	NM_014498.5(GOLIM4):c.1061C>T (p.Ala354Val)	GOLIM4 (A354V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623708	NM_014498.5(GOLIM4):c.1060G>A (p.Ala354Thr)	GOLIM4 (A326T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255022	NM_014498.5(GOLIM4):c.958C>T (p.Pro320Ser)	GOLIM4 (P320S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492879	NM_014498.5(GOLIM4):c.889G>A (p.Gly297Arg)	GOLIM4 (G269R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206097	NM_014498.5(GOLIM4):c.869A>G (p.Gln290Arg)	GOLIM4 (Q262R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212494	NM_014498.5(GOLIM4):c.851G>A (p.Arg284Gln)	GOLIM4 (R256Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100947	NM_014498.5(GOLIM4):c.806A>G (p.Asn269Ser)	GOLIM4 (N269S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2331217	NM_014498.5(GOLIM4):c.692T>C (p.Val231Ala)	GOLIM4 (V203A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348345	NM_014498.5(GOLIM4):c.679G>A (p.Ala227Thr)	GOLIM4 (A227T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217410	NM_014498.5(GOLIM4):c.595G>C (p.Val199Leu)	GOLIM4 (V199L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257416	NM_014498.5(GOLIM4):c.538G>A (p.Glu180Lys)	GOLIM4 (E180K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348215	NM_014498.5(GOLIM4):c.451A>G (p.Asn151Asp)	GOLIM4 (N151D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264549	NM_014498.5(GOLIM4):c.446C>T (p.Thr149Ile)	GOLIM4 (T149I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554801	NM_014498.5(GOLIM4):c.259G>C (p.Glu87Gln)	GOLIM4 (E87Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281965	NM_014498.5(GOLIM4):c.231A>T (p.Lys77Asn)	GOLIM4 (K77N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480715	NM_014498.5(GOLIM4):c.97T>C (p.Tyr33His)	GOLIM4 (Y33H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024629	GRCh37/hg19 3q26.1-26.2(chr3:164432414-167873834)x1	BCHE, GOLIM4 +7 more	Copy number loss	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
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 1527053	GRCh37/hg19 3q26.1-26.2(chr3:163595552-168022596)	BCHE, GOLIM4 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 686844	GRCh37/hg19 3q26.1-26.2(chr3:165603872-168796960)x1	GOLIM4, PDCD10 +4 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 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	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

Search results

Items: 66