"GeneDx"[submitter] AND "HTRA1"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 299044	NM_002775.5(HTRA1):c.59C>T (p.Ala20Val)	ARMS2, HTRA1 (A20V)	Single nucleotide variant (missense variant)	CARASIL syndrome +2 more	GBenign/Likely benign
Select item 2578176	NM_002775.5(HTRA1):c.74C>T (p.Ser25Phe)	HTRA1 (S25F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 21324	NM_002775.5(HTRA1):c.102C>T (p.Ala34=)	ARMS2, HTRA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 21326	NM_002775.5(HTRA1):c.108G>T (p.Gly36=)	HTRA1, ARMS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 21325	NM_002775.5(HTRA1):c.108G>C (p.Gly36=)	ARMS2, HTRA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1959435	NM_002775.5(HTRA1):c.184_185del (p.Cys62fs)	HTRA1 (C62fs)	Deletion (frameshift variant)	HTRA1-related autosomal dominant cerebral small vessel disease +1 more	GPathogenic
Select item 2506662	NM_002775.5(HTRA1):c.205G>C (p.Gly69Arg)	HTRA1 (G69R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 504420	NM_002775.5(HTRA1):c.267C>A (p.Cys89Ter)	HTRA1 (C89*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1341619	NM_002775.5(HTRA1):c.278_280delinsCC (p.Phe93fs)	HTRA1 (F93fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 1263788	NM_002775.5(HTRA1):c.473-176C>G	HTRA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1325819	NM_002775.5(HTRA1):c.496C>T (p.Arg166Cys)	HTRA1 (R166C)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 +1 more	GPathogenic/Likely pathogenic
Select item 2573769	NM_002775.5(HTRA1):c.646G>A (p.Val216Met)	HTRA1 (V216M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100572	NM_002775.5(HTRA1):c.753C>T (p.Ile251=)	HTRA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1273644	NM_002775.5(HTRA1):c.777+93C>T	HTRA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245621	NM_002775.5(HTRA1):c.777+167G>A	HTRA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1167167	NM_002775.5(HTRA1):c.778-20G>A	HTRA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1184940	NM_002775.5(HTRA1):c.847G>A (p.Gly283Arg)	HTRA1 (G283R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 30244	NM_002775.5(HTRA1):c.883G>A (p.Gly295Arg)	HTRA1 (G295R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1311703	NM_002775.5(HTRA1):c.893G>A (p.Ser298Asn)	HTRA1 (S298N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704529	NM_002775.5(HTRA1):c.958G>A (p.Asp320Asn)	HTRA1 (D320N)	Single nucleotide variant (missense variant)	HTRA1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 180746	NM_002775.5(HTRA1):c.961G>A (p.Ala321Thr)	HTRA1 (A321T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1948614	NM_002775.5(HTRA1):c.972+1G>A	HTRA1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1233351	NM_002775.5(HTRA1):c.972+99C>T	HTRA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280393	NM_002775.5(HTRA1):c.972+215G>A	HTRA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287614	NM_002775.5(HTRA1):c.1005+74TTGT[2]	HTRA1	Microsatellite (intron variant)	not provided	GBenign
Select item 1296786	NM_002775.5(HTRA1):c.1005+169G>A	HTRA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246855	NM_002775.5(HTRA1):c.1120+115C>G	HTRA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289011	NM_002775.5(HTRA1):c.1120+254G>C	HTRA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287563	NM_002775.5(HTRA1):c.1179-226_1179-225del	HTRA1	Deletion (intron variant)	not provided	GBenign
Select item 1275289	NM_002775.5(HTRA1):c.1179-216_1179-204del	HTRA1	Microsatellite (intron variant)	not provided	GBenign
Select item 1280319	NM_002775.5(HTRA1):c.1179-220del	HTRA1	Deletion (intron variant)	not provided	GBenign
Select item 1244299	NM_002775.5(HTRA1):c.1179-211del	HTRA1	Deletion (intron variant)	not provided	GBenign
Select item 1247314	NM_002775.5(HTRA1):c.1179-205_1179-204insTA	HTRA1	Insertion (intron variant)	not provided	GBenign
Select item 2500388	NM_002775.5(HTRA1):c.1195A>C (p.Lys399Gln)	HTRA1 (K399Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708645	NM_002775.5(HTRA1):c.1215C>G (p.Phe405Leu)	HTRA1 (F405L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 299054	NM_002775.5(HTRA1):c.1274+8G>A	HTRA1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 299055	NM_002775.5(HTRA1):c.1274+14G>A	HTRA1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1259856	NM_002775.5(HTRA1):c.1275-36C>T	HTRA1	Single nucleotide variant (intron variant)	CARASIL syndrome +2 more	GBenign
Select item 1254828	NM_002775.5(HTRA1):c.1348G>A (p.Asp450Asn)	HTRA1 (D450N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic
Select item 253439	GRCh37/hg19 10q26.12-26.2(chr10:122239239-128203032)x1	C10orf90, CHST15 +40 more	Copy number loss	See cases	GPathogenic

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Items: 42