LHFPL2[gene] - ClinVar - NCBI

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

Search results

Items: 18

	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 2569885	NM_005779.3(LHFPL2):c.588C>G (p.Phe196Leu)	LHFPL2 (F196L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395733	NM_005779.3(LHFPL2):c.569G>T (p.Gly190Val)	LHFPL2 (G190V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510972	NM_005779.3(LHFPL2):c.486G>T (p.Lys162Asn)	LHFPL2 (K162N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374726	NM_005779.3(LHFPL2):c.266T>C (p.Phe89Ser)	LHFPL2 (F89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532615	NM_005779.3(LHFPL2):c.205C>T (p.Arg69Trp)	LHFPL2, LOC129994111 (R69W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118618	NM_005779.3(LHFPL2):c.157T>G (p.Ser53Ala)	LHFPL2, LOC129994111 (S53A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529196	NM_005779.3(LHFPL2):c.121C>T (p.Arg41Cys)	LHFPL2 (R41C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118616	NM_005779.3(LHFPL2):c.106G>C (p.Gly36Arg)	LHFPL2 (G36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612108	NM_005779.3(LHFPL2):c.94G>C (p.Asp32His)	LHFPL2 (D32H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424719	NC_000005.9:g.(?_76115008)_(78281071_?)del	AGGF1, AP3B1 +11 more	Deletion	Hermansky-Pudlak syndrome 2	GPathogenic
Select item 1809020	GRCh37/hg19 5q14.1(chr5:77746948-79089197)x1	ARSB, BHMT +8 more	Copy number loss	not provided	GUncertain significance
Select item 1073286	NC_000005.9:g.(?_77385207)_(78135259_?)del	AP3B1, ARSB +2 more	Deletion	Mucopolysaccharidosis type 6	GPathogenic
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