ClinVar for Gene (Select 26355) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277214	NM_014367.4(FAM162A):c.226C>T (p.Arg76Cys)	FAM162A (R76C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091948	NM_014367.4(FAM162A):c.455A>G (p.Lys152Arg)	FAM162A (K152R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091947	NM_014367.4(FAM162A):c.422C>T (p.Ala141Val)	FAM162A (A141V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091946	NM_014367.4(FAM162A):c.145G>A (p.Gly49Arg)	FAM162A (G49R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2550367	NM_014367.4(FAM162A):c.299G>A (p.Arg100Gln)	FAM162A (R100Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423002	NC_000003.11:g.(?_121489192)_(125313644_?)dup	CSTA, ADCY5 +32 more	Duplication	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2408336	NM_014367.4(FAM162A):c.232A>G (p.Lys78Glu)	FAM162A (K78E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394068	NM_014367.4(FAM162A):c.288G>C (p.Lys96Asn)	FAM162A (K96N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371620	NM_014367.4(FAM162A):c.425G>A (p.Arg142His)	FAM162A (R142H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337240	NM_014367.4(FAM162A):c.11T>G (p.Leu4Arg)	FAM162A (L4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274528	NM_014367.4(FAM162A):c.359T>C (p.Ile120Thr)	FAM162A (I120T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244653	NM_014367.4(FAM162A):c.316C>G (p.Leu106Val)	FAM162A (L106V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2212263	NM_014367.4(FAM162A):c.376G>A (p.Ala126Thr)	FAM162A (A126T)	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 1707450	Single allele	CASR, CSTA +45 more	Duplication	not specified	GUncertain significance
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 687972	GRCh37/hg19 3q13.33-21.1(chr3:121384741-123672180)x3	ADCY5, CASR +23 more	Copy number gain	not provided	GUncertain significance
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 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 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	LOC129937447, LOC129937448 +214 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 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 more	Copy number loss	See cases	GPathogenic
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

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Links from Gene

Items: 33