LDHAL6A[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 58856	GRCh38/hg38 11p15.1(chr11:17905089-19674505)x1	CSRP3, CSRP3-AS1 +86 more	Copy number loss	See cases	GPathogenic
Select item 2618856	NM_144972.5(LDHAL6A):c.26T>C (p.Ile9Thr)	LDHAL6A (I9T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531900	NM_144972.5(LDHAL6A):c.83C>A (p.Thr28Asn)	LDHAL6A (T28N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118219	NM_144972.5(LDHAL6A):c.248A>G (p.Tyr83Cys)	LDHAL6A (Y83C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118220	NM_144972.5(LDHAL6A):c.269A>G (p.Asn90Ser)	LDHAL6A (N90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354508	NM_144972.5(LDHAL6A):c.308G>A (p.Gly103Glu)	LDHAL6A (G103E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118222	NM_144972.5(LDHAL6A):c.476T>C (p.Ile159Thr)	LDHAL6A (I159T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293048	NM_144972.5(LDHAL6A):c.553T>G (p.Cys185Gly)	LDHAL6A (C185G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380183	NM_144972.5(LDHAL6A):c.557A>G (p.His186Arg)	LDHAL6A (H186R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118223	NM_144972.5(LDHAL6A):c.590G>C (p.Ser197Thr)	LDHAL6A (S197T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118224	NM_144972.5(LDHAL6A):c.591T>G (p.Ser197Arg)	LDHAL6A (S197R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411514	NM_144972.5(LDHAL6A):c.619G>A (p.Ala207Thr)	LDHAL6A (A207T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118225	NM_144972.5(LDHAL6A):c.653T>A (p.Ile218Lys)	LDHAL6A (I218K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340310	NM_144972.5(LDHAL6A):c.806G>C (p.Arg269Thr)	LDHAL6A (R269T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290363	NM_144972.5(LDHAL6A):c.836G>A (p.Gly279Asp)	LDHAL6A (G279D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381499	NM_144972.5(LDHAL6A):c.847A>G (p.Ile283Val)	LDHAL6A (I283V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288278	NM_144972.5(LDHAL6A):c.907C>T (p.Leu303Phe)	LDHAL6A (L303F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290362	NM_144972.5(LDHAL6A):c.923T>G (p.Leu308Arg)	LDHAL6A (L308R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244681	NC_000011.9:g.(?_18418390)_(19213995_?)del	CSRP3, IGSF22 +11 more	Deletion	Hypertrophic cardiomyopathy 12 +1 more	GPathogenic
Select item 2424682	NC_000011.9:g.(?_18418390)_(19204313_?)del	CSRP3, IGSF22 +11 more	Deletion	Dilated cardiomyopathy 1M +1 more	GUncertain significance
Select item 1808754	GRCh37/hg19 11p15.1(chr11:17784556-18797650)x3	GTF2H1, HPS5 +19 more	Copy number gain	not provided	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1527629	GRCh37/hg19 11p15.1(chr11:18482438-18792764)	IGSF22, LDHAL6A +5 more	Copy number loss	not specified	GUncertain significance
Select item 999235	NC_000011.9:g.(?_17552691)_(19213995_?)dup	CSRP3, GTF2H1 +26 more	Duplication	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980402	GRCh37/hg19 11p15.1(chr11:18441339-18526284)x1	LDHAL6A, TSG101 +1 more	Copy number loss	not provided	GUncertain significance
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	LDHA, SLC5A12 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 563866	GRCh37/hg19 11p15.1(chr11:17527585-18606820)x1	GTF2H1, HPS5 +18 more	Copy number loss	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic

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Items: 36