LOC126807509[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	LOC129994513, LOC129994514 +200 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	ACSL6, ACSL6-AS1 +263 more	Copy number loss	See cases	GPathogenic
Select item 58360	GRCh38/hg38 5q31.1(chr5:132816203-135383158)x1	AFF4, AFF4-DT +147 more	Copy number loss	See cases	GPathogenic
Select item 676789	NM_014402.4(UQCRQ):c.-139T>C	GDF9, LOC126807509 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1240834	NC_000005.10:g.132866569A>G	GDF9, LOC126807509 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 350837	NM_014402.5(UQCRQ):c.-31del	LOC126807509, UQCRQ	Deletion (5 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 1	GUncertain significance
Select item 508414	NM_014402.5(UQCRQ):c.-23G>C	LOC126807509, UQCRQ	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 350838	NM_014402.5(UQCRQ):c.-18G>C	LOC126807509, UQCRQ	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 904277	NM_014402.5(UQCRQ):c.-16C>T	LOC126807509, UQCRQ	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1183892	NM_014402.5(UQCRQ):c.-14+20T>C	UQCRQ, LOC126807509	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225029	NM_014402.5(UQCRQ):c.-14+32C>G	LOC126807509, UQCRQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318354	NM_014402.5(UQCRQ):c.-13-22C>T	LOC126807509, UQCRQ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 510745	NM_014402.5(UQCRQ):c.-13-18C>T	LOC126807509, UQCRQ	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 215349	NM_014402.5(UQCRQ):c.10G>A (p.Glu4Lys)	UQCRQ, LOC126807509 (E4K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1033694	NM_014402.5(UQCRQ):c.22C>A (p.Leu8Met)	LOC126807509, UQCRQ (L8M)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 4	GUncertain significance
Select item 350839	NM_014402.5(UQCRQ):c.45C>T (p.Ile15=)	UQCRQ, LOC126807509	Single nucleotide variant (synonymous variant)	Mitochondrial complex III deficiency nuclear type 4 +1 more	GConflicting classifications of pathogenicity
Select item 2416445	NM_014402.5(UQCRQ):c.60A>G (p.Ser20=)	LOC126807509, UQCRQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737693	NM_014402.5(UQCRQ):c.81T>C (p.Tyr27=)	LOC126807509, UQCRQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3031656	NM_014402.5(UQCRQ):c.84G>T (p.Pro28=)	LOC126807509, UQCRQ	Single nucleotide variant (synonymous variant)	UQCRQ-related disorder	GLikely benign
Select item 669826	NM_014402.5(UQCRQ):c.90C>T (p.Val30=)	LOC126807509, UQCRQ	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 513958	NM_014402.5(UQCRQ):c.90C>G (p.Val30=)	LOC126807509, UQCRQ	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 215350	NM_014402.5(UQCRQ):c.95C>T (p.Thr32Ile)	LOC126807509, UQCRQ (T32I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2392753	NM_014402.5(UQCRQ):c.101G>T (p.Gly34Val)	LOC126807509, UQCRQ (G34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 137891	NM_014402.5(UQCRQ):c.108C>G (p.Pro36=)	LOC126807509, UQCRQ	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2402585	NM_014402.5(UQCRQ):c.110A>G (p.Asn37Ser)	LOC126807509, UQCRQ (N37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1958085	NM_014402.5(UQCRQ):c.110A>C (p.Asn37Thr)	LOC126807509, UQCRQ (N37T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2296737	NM_014402.5(UQCRQ):c.113T>A (p.Val38Asp)	LOC126807509, UQCRQ (V38D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2420693	NM_014402.5(UQCRQ):c.116T>G (p.Leu39Arg)	LOC126807509, UQCRQ (L39R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 729	NM_014402.5(UQCRQ):c.134C>T (p.Ser45Phe)	LOC126807509, UQCRQ (S45F)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3186890	NM_014402.5(UQCRQ):c.142C>T (p.Arg48Cys)	LOC126807509, UQCRQ (R48C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2971717	NM_014402.5(UQCRQ):c.144del (p.Val49fs)	LOC126807509, UQCRQ (V49fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2620620	NM_014402.5(UQCRQ):c.152C>G (p.Pro51Arg)	LOC126807509, UQCRQ (P51R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 137892	NM_014402.5(UQCRQ):c.154+17C>T	LOC126807509, UQCRQ	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

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Items: 36