"Ambry Genetics"[submitter] AND "HTRA4"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3107613	NM_153692.4(HTRA4):c.10C>T (p.Pro4Ser)	HTRA4 (P4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107615	NM_153692.4(HTRA4):c.127G>A (p.Val43Ile)	HTRA4 (V43I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234199	NM_153692.4(HTRA4):c.208C>G (p.Arg70Gly)	HTRA4, LOC130000258 (R70G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283239	NM_153692.4(HTRA4):c.226G>A (p.Glu76Lys)	HTRA4, LOC130000258 (E76K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624128	NM_153692.4(HTRA4):c.241G>C (p.Gly81Arg)	HTRA4, LOC130000258 (G81R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107616	NM_153692.4(HTRA4):c.247G>A (p.Ala83Thr)	HTRA4, LOC130000258 (A83T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460683	NM_153692.4(HTRA4):c.269C>T (p.Pro90Leu)	HTRA4, LOC130000258 (P90L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107617	NM_153692.4(HTRA4):c.299C>T (p.Pro100Leu)	HTRA4, LOC130000258 (P100L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323738	NM_153692.4(HTRA4):c.341C>T (p.Ala114Val)	HTRA4, LOC130000258 (A114V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366162	NM_153692.4(HTRA4):c.360G>C (p.Arg120Ser)	HTRA4, LOC130000258 (R120S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377251	NM_153692.4(HTRA4):c.391G>A (p.Ala131Thr)	HTRA4 (A131T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2257948	NM_153692.4(HTRA4):c.403G>T (p.Ala135Ser)	HTRA4 (A135S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364444	NM_153692.4(HTRA4):c.413G>C (p.Arg138Pro)	HTRA4 (R138P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245676	NM_153692.4(HTRA4):c.447G>T (p.Trp149Cys)	HTRA4 (W149C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396055	NM_153692.4(HTRA4):c.448G>A (p.Gly150Arg)	HTRA4 (G150R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387872	NM_153692.4(HTRA4):c.461A>G (p.Asp154Gly)	HTRA4 (D154G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539260	NM_153692.4(HTRA4):c.732C>G (p.Asp244Glu)	HTRA4 (D244E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478582	NM_153692.4(HTRA4):c.794T>C (p.Leu265Pro)	HTRA4 (L265P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107618	NM_153692.4(HTRA4):c.806C>T (p.Ser269Phe)	HTRA4 (S269F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216414	NM_153692.4(HTRA4):c.825G>C (p.Glu275Asp)	HTRA4 (E275D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243651	NM_153692.4(HTRA4):c.917G>A (p.Gly306Glu)	HTRA4 (G306E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618972	NM_153692.4(HTRA4):c.933T>G (p.Asp311Glu)	HTRA4 (D311E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107619	NM_153692.4(HTRA4):c.967T>C (p.Tyr323His)	HTRA4 (Y323H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3107614	NM_153692.4(HTRA4):c.1247T>G (p.Val416Gly)	HTRA4 (V416G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619985	NM_153692.4(HTRA4):c.1309G>A (p.Gly437Arg)	HTRA4 (G437R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251200	NM_153692.4(HTRA4):c.1330A>G (p.Thr444Ala)	HTRA4 (T444A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494494	NM_153692.4(HTRA4):c.1369A>G (p.Met457Val)	HTRA4 (M457V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511747	NM_153692.4(HTRA4):c.1378C>A (p.Leu460Ile)	HTRA4 (L460I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564218	NM_153692.4(HTRA4):c.1381C>T (p.Arg461Trp)	HTRA4 (R461W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404953	NM_153692.4(HTRA4):c.1414C>T (p.Pro472Ser)	HTRA4 (P472S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 30