ClinVar for Gene (Select 129934140) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2972582	NM_013247.5(HTRA2):c.507-13C>T	HTRA2, LOC129934140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970683	NM_013247.5(HTRA2):c.507-10_507-9delinsAA	HTRA2, LOC129934140	Indel (intron variant)	not provided	GUncertain significance
Select item 2786380	NM_013247.5(HTRA2):c.495G>A (p.Glu165=)	HTRA2, LOC129934140	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2777798	NM_013247.5(HTRA2):c.507-13C>G	HTRA2, LOC129934140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2714136	NM_013247.5(HTRA2):c.507-16T>C	HTRA2, LOC129934140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2708383	NM_013247.5(HTRA2):c.506G>A (p.Arg169Gln)	HTRA2, LOC129934140 (R169Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1987201	NM_013247.5(HTRA2):c.500T>G (p.Leu167Arg)	HTRA2, LOC129934140 (L167R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1943727	NM_013247.5(HTRA2):c.507-20G>T	HTRA2, LOC129934140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1942712	NM_013247.5(HTRA2):c.506+9G>A	HTRA2, LOC129934140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1650825	NM_013247.5(HTRA2):c.506+8_506+10del	HTRA2, LOC129934140	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1614700	NM_013247.5(HTRA2):c.506+10G>C	HTRA2, LOC129934140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271653	NM_013247.5(HTRA2):c.506+50G>A	HTRA2, LOC129934140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 733681	NM_013247.5(HTRA2):c.507-9C>T	HTRA2, LOC129934140	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 337131	NM_013247.5(HTRA2):c.507-9C>A	HTRA2, LOC129934140	Single nucleotide variant (intron variant)	Parkinson disease 13, autosomal dominant, susceptibility to +1 more	GUncertain significance
Select item 337130	NM_013247.5(HTRA2):c.507-10T>A	HTRA2, LOC129934140	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 155389	GRCh38/hg38 2p13.1-12(chr2:74375779-75517520)x1	AUP1, C2orf81 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 147468	GRCh38/hg38 2p13.1-12(chr2:74432069-75181627)x3	AUP1, CCDC142 +66 more	Copy number gain	See cases	GUncertain significance
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic