ClinVar for Gene (Select 10468) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280099	NM_013409.3(FST):c.580C>T (p.Arg194Trp)	FST (R194W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280098	NM_013409.3(FST):c.970G>A (p.Glu324Lys)	FST (E324K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3097329	NM_013409.3(FST):c.797G>A (p.Arg266Gln)	FST (R266Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097327	NM_013409.3(FST):c.355G>A (p.Ala119Thr)	FST (A119T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062842	GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1	ACTBL2, ANKRD55 +35 more	Copy number loss	not specified	GLikely pathogenic
Select item 2618422	NM_013409.3(FST):c.842A>G (p.Glu281Gly)	FST (E281G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424366	NC_000005.9:g.(?_52285299)_(56189507_?)del	ANKRD55, ARL15 +23 more	Deletion	not provided	GPathogenic
Select item 2377836	NM_013409.3(FST):c.17A>C (p.His6Pro)	FST (H6P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352664	NM_013409.3(FST):c.844C>G (p.Pro282Ala)	FST (P282A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225682	NM_013409.3(FST):c.847G>C (p.Val283Leu)	FST (V283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 982235	NM_013409.3(FST):c.167G>A (p.Cys56Tyr)	FST (C56Y)	Single nucleotide variant (missense variant)	Orofacial cleft +1 more	GConflicting classifications of pathogenicity
Select item 979674	GRCh37/hg19 5q11.1-11.2(chr5:49430268-53182665)x1	NDUFS4, MOCS2 +8 more	Copy number loss	not provided	GPathogenic
Select item 780536	NM_013409.3(FST):c.85+9G>C	FST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 744935	NM_013409.3(FST):c.906C>T (p.Cys302=)	FST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721052	NM_013409.3(FST):c.581G>A (p.Arg194Gln)	FST (R194Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 719871	NM_013409.3(FST):c.454G>C (p.Glu152Gln)	FST (E152Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 716112	NM_013409.3(FST):c.52C>T (p.Leu18Phe)	FST (L18F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 443292	GRCh37/hg19 5q11.2(chr5:50824656-53452371)x1	ARL15, FST +5 more	Copy number loss	See cases	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
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148959	GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3	ANKRD55, ARL15 +125 more	Copy number gain	See cases	GUncertain significance
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 59608	GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1	ARL15, CCNO +96 more	Copy number loss	See cases	GPathogenic
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 27