FAM171A2[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 59586	GRCh38/hg38 17q21.31(chr17:43570878-44762377)x1	ADAM11, ASB16 +104 more	Copy number loss	See cases	GPathogenic
Select item 145615	GRCh38/hg38 17q21.31(chr17:43934167-44854025)x1	ADAM11, ASB16 +86 more	Copy number loss	See cases	GPathogenic
Select item 2459735	NM_198475.3(FAM171A2):c.2396C>T (p.Ala799Val)	FAM171A2 (A799V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092037	NM_198475.3(FAM171A2):c.2393G>A (p.Gly798Glu)	FAM171A2 (G798E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092036	NM_198475.3(FAM171A2):c.2389C>G (p.Leu797Val)	FAM171A2 (L797V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277256	NM_198475.3(FAM171A2):c.2299C>T (p.Pro767Ser)	FAM171A2 (P767S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277259	NM_198475.3(FAM171A2):c.2243C>T (p.Ser748Leu)	FAM171A2 (S748L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249444	NM_198475.3(FAM171A2):c.2209A>G (p.Ser737Gly)	FAM171A2 (S737G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331706	NM_198475.3(FAM171A2):c.2167C>T (p.Arg723Cys)	FAM171A2 (R723C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473967	NM_198475.3(FAM171A2):c.2165C>T (p.Pro722Leu)	FAM171A2 (P722L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222165	NM_198475.3(FAM171A2):c.2141C>T (p.Ala714Val)	FAM171A2 (A714V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092035	NM_198475.3(FAM171A2):c.2132C>T (p.Pro711Leu)	FAM171A2 (P711L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622503	NM_198475.3(FAM171A2):c.2087G>A (p.Arg696Gln)	FAM171A2 (R696Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258357	NM_198475.3(FAM171A2):c.2084C>T (p.Ala695Val)	FAM171A2 (A695V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306976	NM_198475.3(FAM171A2):c.1819G>A (p.Gly607Arg)	FAM171A2 (G607R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092033	NM_198475.3(FAM171A2):c.1783G>A (p.Glu595Lys)	FAM171A2 (E595K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277255	NM_198475.3(FAM171A2):c.1751C>T (p.Pro584Leu)	FAM171A2 (P584L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092031	NM_198475.3(FAM171A2):c.1703C>G (p.Thr568Arg)	FAM171A2 (T568R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406350	NM_198475.3(FAM171A2):c.1699G>A (p.Gly567Ser)	FAM171A2 (G567S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092030	NM_198475.3(FAM171A2):c.1691C>T (p.Pro564Leu)	FAM171A2 (P564L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092029	NM_198475.3(FAM171A2):c.1670G>A (p.Gly557Asp)	FAM171A2 (G557D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512606	NM_198475.3(FAM171A2):c.1594G>C (p.Val532Leu)	FAM171A2 (V532L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092028	NM_198475.3(FAM171A2):c.1513G>C (p.Asp505His)	FAM171A2 (D505H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092027	NM_198475.3(FAM171A2):c.1462A>C (p.Lys488Gln)	FAM171A2, LOC130060981 (K488Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308900	NM_198475.3(FAM171A2):c.1416C>G (p.His472Gln)	FAM171A2 (H472Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336163	NM_198475.3(FAM171A2):c.1225G>A (p.Ala409Thr)	FAM171A2 (A409T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092044	NM_198475.3(FAM171A2):c.931G>A (p.Gly311Ser)	FAM171A2 (G311S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312601	NM_198475.3(FAM171A2):c.924G>C (p.Gln308His)	FAM171A2 (Q308H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533128	NM_198475.3(FAM171A2):c.890C>T (p.Thr297Met)	FAM171A2 (T297M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092043	NM_198475.3(FAM171A2):c.880G>T (p.Ala294Ser)	FAM171A2 (A294S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277260	NM_198475.3(FAM171A2):c.817G>C (p.Glu273Gln)	FAM171A2 (E273Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333334	NM_198475.3(FAM171A2):c.790C>A (p.Arg264Ser)	FAM171A2 (R264S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399001	NM_198475.3(FAM171A2):c.646C>T (p.His216Tyr)	FAM171A2 (H216Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303744	NM_198475.3(FAM171A2):c.554T>A (p.Met185Lys)	FAM171A2 (M185K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290980	NM_198475.3(FAM171A2):c.535G>C (p.Ala179Pro)	FAM171A2 (A179P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092042	NM_198475.3(FAM171A2):c.521C>T (p.Ala174Val)	FAM171A2 (A174V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092041	NM_198475.3(FAM171A2):c.500C>G (p.Ser167Cys)	FAM171A2 (S167C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333360	NM_198475.3(FAM171A2):c.445C>T (p.Arg149Cys)	FAM171A2 (R149C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613431	NM_198475.3(FAM171A2):c.424C>G (p.Leu142Val)	FAM171A2 (L142V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380359	NM_198475.3(FAM171A2):c.382C>T (p.Arg128Trp)	FAM171A2 (R128W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092040	NM_198475.3(FAM171A2):c.353C>T (p.Ala118Val)	FAM171A2 (A118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092038	NM_198475.3(FAM171A2):c.277G>A (p.Val93Met)	FAM171A2 (V93M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260666	NM_198475.3(FAM171A2):c.263G>A (p.Arg88His)	FAM171A2 (R88H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092034	NM_198475.3(FAM171A2):c.202A>G (p.Thr68Ala)	FAM171A2 (T68A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277254	NM_198475.3(FAM171A2):c.199C>T (p.Arg67Trp)	FAM171A2 (R67W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261255	NM_198475.3(FAM171A2):c.173G>A (p.Arg58Gln)	FAM171A2 (R58Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399640	NM_198475.3(FAM171A2):c.172C>T (p.Arg58Trp)	FAM171A2 (R58W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399731	NM_198475.3(FAM171A2):c.107C>A (p.Pro36His)	FAM171A2, LOC130060982 (P36H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264915	NM_198475.3(FAM171A2):c.107C>G (p.Pro36Arg)	FAM171A2, LOC130060982 (P36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277258	NM_198475.3(FAM171A2):c.44C>T (p.Pro15Leu)	FAM171A2, LOC130060982 (P15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092039	NM_198475.3(FAM171A2):c.32C>G (p.Ala11Gly)	FAM171A2, LOC130060982 (A11G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277261	NM_198475.3(FAM171A2):c.20C>T (p.Pro7Leu)	FAM171A2, LOC130060982 (P7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 59