FAM117A[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 151158	GRCh38/hg38 17q21.33(chr17:49361155-50269440)x1	COL1A1, DLX3 +74 more	Copy number loss	See cases	GPathogenic
Select item 2478680	NM_030802.4(FAM117A):c.1355T>C (p.Met452Thr)	FAM117A (M180T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543997	NM_030802.4(FAM117A):c.877G>A (p.Ala293Thr)	FAM117A (A21T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491671	NM_030802.4(FAM117A):c.782T>G (p.Leu261Arg)	FAM117A (L261R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595068	NM_030802.4(FAM117A):c.733C>T (p.Arg245Trp)	FAM117A (R245W)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608821	NM_030802.4(FAM117A):c.584C>G (p.Pro195Arg)	FAM117A (P195R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264718	NM_030802.4(FAM117A):c.549C>A (p.Asp183Glu)	FAM117A (D183E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536878	NM_030802.4(FAM117A):c.506G>A (p.Arg169His)	FAM117A (R169H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369254	NM_030802.4(FAM117A):c.505C>T (p.Arg169Cys)	FAM117A (R169C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383380	NM_030802.4(FAM117A):c.424C>T (p.Arg142Cys)	FAM117A (R142C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295767	NM_030802.4(FAM117A):c.343T>C (p.Cys115Arg)	FAM117A (C115R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350304	NM_030802.4(FAM117A):c.202G>A (p.Val68Ile)	FAM117A (V68I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243088	NM_030802.4(FAM117A):c.169C>A (p.Gln57Lys)	FAM117A, LOC130061131 (Q57K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318693	NM_030802.4(FAM117A):c.112C>T (p.Arg38Trp)	FAM117A, LOC130061131 (R38W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512180	NM_030802.4(FAM117A):c.47C>A (p.Pro16Gln)	FAM117A, LOC130061131 (P16Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593368	NM_030802.4(FAM117A):c.23G>A (p.Gly8Asp)	FAM117A (G8D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605532	NM_030802.4(FAM117A):c.10G>A (p.Ala4Thr)	FAM117A (A4T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2692407	Single allele	ABI3, CACNA1G +45 more	Deletion	Tricho-dento-osseous syndrome +1 more	GPathogenic
Select item 815939	GRCh37/hg19 17q21.33(chr17:47689783-47791730)x1	SLC35B1, FAM117A +1 more	Copy number loss	not provided	GUncertain significance
Select item 444852	GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	HOXB3, HOXB4 +67 more	Copy number loss	not provided	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 26