FAM169A[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 29

	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 2320470	NM_001376049.1(FAM169A):c.1949G>A (p.Arg650Gln)	FAM169A (R468Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209304	NM_001376049.1(FAM169A):c.1814C>T (p.Ala605Val)	FAM169A (A605V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336872	NM_001376049.1(FAM169A):c.1774A>G (p.Ile592Val)	FAM169A (I410V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462745	NM_001376049.1(FAM169A):c.1561A>C (p.Lys521Gln)	FAM169A (K435Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551785	NM_001376049.1(FAM169A):c.1521G>C (p.Lys507Asn)	FAM169A (K507N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2343128	NM_001376049.1(FAM169A):c.1471C>T (p.Arg491Cys)	FAM169A (R309C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364192	NM_001376049.1(FAM169A):c.1249G>A (p.Asp417Asn)	FAM169A (D235N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323871	NM_001376049.1(FAM169A):c.1206T>A (p.Asp402Glu)	FAM169A (D316E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233051	NM_001376049.1(FAM169A):c.1077G>T (p.Gln359His)	FAM169A (Q177H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276431	NM_001376049.1(FAM169A):c.1045A>G (p.Ser349Gly)	FAM169A (S263G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605712	NM_001376049.1(FAM169A):c.1030G>C (p.Asp344His)	FAM169A (D258H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2365626	NM_001376049.1(FAM169A):c.974C>A (p.Ser325Tyr)	FAM169A (S325Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599267	NM_001376049.1(FAM169A):c.956A>G (p.His319Arg)	FAM169A (H137R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363739	NM_001376049.1(FAM169A):c.914T>C (p.Ile305Thr)	FAM169A (I123T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2655532	NM_001376049.1(FAM169A):c.843T>C (p.Tyr281=)	FAM169A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2205407	NM_001376049.1(FAM169A):c.821A>G (p.Lys274Arg)	FAM169A (K274R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601088	NM_001376049.1(FAM169A):c.631C>G (p.Leu211Val)	FAM169A (L125V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2348716	NM_001376049.1(FAM169A):c.401T>A (p.Ile134Asn)	FAM169A (I134N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2304380	NM_001376049.1(FAM169A):c.323G>A (p.Ser108Asn)	FAM169A (S108N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2250110	NM_001376049.1(FAM169A):c.131C>T (p.Thr44Met)	FAM169A (T44M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2599887	NM_001376049.1(FAM169A):c.88G>A (p.Gly30Arg)	FAM169A (G30R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2423200	NC_000005.9:g.(?_73980960)_(75008762_?)dup	GFM2, HEXB +9 more	Duplication	not provided	GUncertain significance
Select item 814694	GRCh37/hg19 5q13.2-13.3(chr5:72829994-74076751)x3	ANKRA2, FAM169A +6 more	Copy number gain	not provided	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 29