FAM168A[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 58165	GRCh38/hg38 11q13.4(chr11:73403238-73935284)x3	COA4, FAM168A +20 more	Copy number gain	See cases	GUncertain significance
Select item 3091975	NM_015159.3(FAM168A):c.668A>G (p.Gln223Arg)	FAM168A (Q117R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552227	NM_015159.3(FAM168A):c.626C>T (p.Ala209Val)	FAM168A (A209V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091974	NM_015159.3(FAM168A):c.623C>T (p.Thr208Met)	FAM168A (T102M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344142	NM_015159.3(FAM168A):c.553G>A (p.Ala185Thr)	FAM168A (A194T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091973	NM_015159.3(FAM168A):c.547G>A (p.Gly183Ser)	FAM168A (G183S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589368	NM_015159.3(FAM168A):c.110A>G (p.Asn37Ser)	FAM168A (N37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296740	NM_015159.3(FAM168A):c.22G>A (p.Val8Met)	FAM168A (V8M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 144545	GRCh38/hg38 11q13.4(chr11:73574925-74133379)x3	C2CD3, COA4 +32 more	Copy number gain	See cases	GUncertain significance
Select item 2685411	GRCh37/hg19 11q13.4(chr11:72308632-74236530)x1	ARAP1, ARAP1-AS2 +25 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340460	GRCh37/hg19 11q13.4(chr11:73149024-73572314)x3	FAM168A, MRPL48 +2 more	Copy number gain	not provided	GLikely benign
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 686317	GRCh37/hg19 11q13.4(chr11:72998686-73156844)x3	ARHGEF17, ARHGEF17-AS1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686083	GRCh37/hg19 11q13.4(chr11:73128157-73788461)x4	C2CD3, COA4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563850	GRCh37/hg19 11q13.4(chr11:73254213-73770541)x3	COA4, UCP3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 563843	GRCh37/hg19 11q13.4(chr11:73276899-73615810)x3	PLEKHB1, RAB6A +4 more	Copy number gain	not provided	GLikely benign
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 394189	GRCh37/hg19 11q13.4(chr11:73197127-73712308)x3	UCP3, COA4 +7 more	Copy number gain	See cases	GUncertain significance

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Items: 25