ClinVar for Gene (Select 26996) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3101575	NM_014373.3(GPR160):c.856T>C (p.Phe286Leu)	GPR160 (F286L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101574	NM_014373.3(GPR160):c.820G>A (p.Glu274Lys)	GPR160 (E274K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101573	NM_014373.3(GPR160):c.608A>T (p.Glu203Val)	GPR160 (E203V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101572	NM_014373.3(GPR160):c.151T>G (p.Cys51Gly)	GPR160 (C51G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101571	NM_014373.3(GPR160):c.121C>T (p.Leu41Phe)	GPR160 (L41F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3101570	NM_014373.3(GPR160):c.1006A>C (p.Met336Leu)	GPR160 (M336L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038858	NM_014373.3(GPR160):c.64C>A (p.Leu22Ile)	GPR160 (L22I)	Single nucleotide variant (missense variant)	GPR160-related disorder	GBenign
Select item 3032113	NM_014373.3(GPR160):c.-10A>C	GPR160	Single nucleotide variant (5 prime UTR variant)	GPR160-related disorder	GLikely benign
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2535908	NM_014373.3(GPR160):c.175T>C (p.Cys59Arg)	GPR160 (C59R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473246	NM_014373.3(GPR160):c.730C>T (p.Leu244Phe)	GPR160 (L244F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2422930	NC_000003.11:g.(?_168802697)_(172835521_?)dup	ACTRT3, CLDN11 +25 more	Duplication	Fanconi-Bickel syndrome	GUncertain significance
Select item 2310385	NM_014373.3(GPR160):c.942G>C (p.Trp314Cys)	GPR160 (W314C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303336	NM_014373.3(GPR160):c.544A>C (p.Ser182Arg)	GPR160 (S182R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287170	NM_014373.3(GPR160):c.370T>C (p.Phe124Leu)	GPR160 (F124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274450	NM_014373.3(GPR160):c.689C>G (p.Ser230Cys)	GPR160 (S230C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268902	NM_014373.3(GPR160):c.26G>A (p.Cys9Tyr)	GPR160 (C9Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214739	NM_014373.3(GPR160):c.997A>G (p.Ile333Val)	GPR160 (I333V)	Single nucleotide variant (missense variant)	not specified	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 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1390486	NC_000003.11:g.(?_169482388)_(170130102_?)dup	ACTRT3, GPR160 +10 more	Duplication	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1340561	GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3	ACTL6A, ACTRT3 +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	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
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 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 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
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 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 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 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 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 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 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 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 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 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 40