29138[HGNC] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 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)	not specified	GUncertain significance
Select item 3277230	NM_001376049.1(FAM169A):c.1939G>A (p.Val647Ile)	FAM169A (V465I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3091980	NM_001376049.1(FAM169A):c.1795G>T (p.Val599Leu)	FAM169A (V513L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3091979	NM_001376049.1(FAM169A):c.1736C>A (p.Pro579His)	FAM169A (P397H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3091978	NM_001376049.1(FAM169A):c.1219C>A (p.Leu407Met)	FAM169A (L225M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3277236	NM_001376049.1(FAM169A):c.1121G>A (p.Arg374His)	FAM169A (R374H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3277233	NM_001376049.1(FAM169A):c.1003C>T (p.Arg335Trp)	FAM169A (R153W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3091984	NM_001376049.1(FAM169A):c.897T>G (p.Ser299Arg)	FAM169A (S117R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 3277231	NM_001376049.1(FAM169A):c.835G>A (p.Gly279Arg)	FAM169A (G97R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091983	NM_001376049.1(FAM169A):c.827C>T (p.Pro276Leu)	FAM169A (P94L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205407	NM_001376049.1(FAM169A):c.821A>G (p.Lys274Arg)	FAM169A (K274R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277232	NM_001376049.1(FAM169A):c.725T>C (p.Val242Ala)	FAM169A (V60A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091982	NM_001376049.1(FAM169A):c.667A>G (p.Thr223Ala)	FAM169A (T137A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3277229	NM_001376049.1(FAM169A):c.451A>G (p.Lys151Glu)	FAM169A (K151E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2348716	NM_001376049.1(FAM169A):c.401T>A (p.Ile134Asn)	FAM169A (I134N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2304380	NM_001376049.1(FAM169A):c.323G>A (p.Ser108Asn)	FAM169A (S108N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3277234	NM_001376049.1(FAM169A):c.265G>T (p.Ala89Ser)	FAM169A (A89S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3277235	NM_001376049.1(FAM169A):c.143G>C (p.Ser48Thr)	FAM169A (S48T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2250110	NM_001376049.1(FAM169A):c.131C>T (p.Thr44Met)	FAM169A (T44M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2599887	NM_001376049.1(FAM169A):c.88G>A (p.Gly30Arg)	FAM169A (G30R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2423200	NC_000005.9:g.(?_73980960)_(75008762_?)dup	ANKDD1B, ANKRD31 +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	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
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

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Items: 43