FAM174A[gene] - ClinVar

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Items: 42

	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 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +435 more	Copy number loss	See cases	GPathogenic
Select item 57272	GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	ADGRV1, ARB2A +276 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +274 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	ADGRV1, ALDH7A1 +682 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC129994229, LOC129994230 +688 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	LOC129994369, LOC129994370 +495 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	LOC129994289, LOC129994290 +342 more	Copy number loss	See cases	GPathogenic
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic
Select item 153343	GRCh38/hg38 5q21.1(chr5:100520442-101589071)x3	FAM174A, FAM174A-DT +16 more	Copy number gain	See cases	GUncertain significance
Select item 3092055	NM_198507.3(FAM174A):c.26G>C (p.Cys9Ser)	FAM174A, LOC129994285 (C9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284086	NM_198507.3(FAM174A):c.37C>G (p.Leu13Val)	FAM174A, LOC129994285 (L13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456718	NM_198507.3(FAM174A):c.71C>T (p.Pro24Leu)	FAM174A, LOC129994285 (P24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611097	NM_198507.3(FAM174A):c.160C>T (p.Pro54Ser)	FAM174A (P54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092053	NM_198507.3(FAM174A):c.203G>A (p.Arg68His)	FAM174A (R68H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092054	NM_198507.3(FAM174A):c.211G>C (p.Ala71Pro)	FAM174A (A71P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237152	NM_198507.3(FAM174A):c.236C>A (p.Ser79Tyr)	FAM174A (S79Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618253	NM_198507.3(FAM174A):c.245G>A (p.Gly82Asp)	FAM174A (G82D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291760	NM_198507.3(FAM174A):c.288C>A (p.His96Gln)	FAM174A (H96Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092056	NM_198507.3(FAM174A):c.344C>G (p.Pro115Arg)	FAM174A (P115R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348076	NM_198507.3(FAM174A):c.365A>G (p.Gln122Arg)	FAM174A (Q122R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544723	NM_198507.3(FAM174A):c.398G>T (p.Gly133Val)	FAM174A (G133V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092057	NM_198507.3(FAM174A):c.437T>C (p.Met146Thr)	FAM174A (M146T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092058	NM_198507.3(FAM174A):c.440G>A (p.Arg147Lys)	FAM174A (R147K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301115	NM_198507.3(FAM174A):c.452G>A (p.Arg151Gln)	FAM174A (R151Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092059	NM_198507.3(FAM174A):c.530A>T (p.Asp177Val)	FAM174A (D177V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148929	GRCh37/hg19 5q14.3-21.2(chr5:89923199-104256041)x3	ADGRV1, ARB2A +34 more	Copy number gain	See cases	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 1527181	GRCh37/hg19 5q21.1(chr5:99850386-100924775)	FAM174A, ST8SIA4	Copy number gain	not specified	GUncertain significance
Select item 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
Select item 816490	GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3	CAST, CETN3 +45 more	Copy number gain	See cases	GLikely pathogenic
Select item 814716	GRCh37/hg19 5q21.1(chr5:99678630-99907724)x1	FAM174A	Copy number loss	not provided	GUncertain significance
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563091	GRCh37/hg19 5q14.3-21.3(chr5:91504101-104858348)x1	ARB2A, ARSK +31 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	APBB3, CDX1 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 443331	GRCh37/hg19 5q15-21.2(chr5:95049966-103537589)x1	CAST, CHD1 +19 more	Copy number loss	See cases	GLikely pathogenic
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 441955	GRCh37/hg19 5q21.1-21.2(chr5:98845559-103355831)x1	FAM174A, GIN1 +7 more	Copy number loss	See cases	GUncertain significance
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
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign

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Items: 42