"Ambry Genetics"[submitter] AND "HSPA4L"[gene] - ClinVar

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

Search results

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2457436	NM_014278.4(HSPA4L):c.173C>T (p.Thr58Met)	HSPA4L (T58M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568068	NM_014278.4(HSPA4L):c.179T>C (p.Val60Ala)	HSPA4L (V34A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327841	NM_014278.4(HSPA4L):c.252G>T (p.Arg84Ser)	HSPA4L (R115S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327842	NM_014278.4(HSPA4L):c.253A>T (p.Ile85Phe)	HSPA4L (I116F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334813	NM_014278.4(HSPA4L):c.293G>C (p.Ser98Thr)	HSPA4L (S129T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370662	NM_014278.4(HSPA4L):c.311G>A (p.Arg104Gln)	HSPA4L (R135Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552267	NM_014278.4(HSPA4L):c.319G>C (p.Glu107Gln)	HSPA4L (E107Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512810	NM_014278.4(HSPA4L):c.340A>G (p.Ile114Val)	HSPA4L (I114V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319525	NM_014278.4(HSPA4L):c.415G>C (p.Asp139His)	HSPA4L (D170H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322432	NM_014278.4(HSPA4L):c.579G>T (p.Glu193Asp)	HSPA4L (E193D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599169	NM_014278.4(HSPA4L):c.583C>G (p.Pro195Ala)	HSPA4L (P195A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484027	NM_014278.4(HSPA4L):c.1238G>A (p.Gly413Glu)	HSPA4L (G387E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281122	NM_014278.4(HSPA4L):c.1274C>T (p.Pro425Leu)	HSPA4L (P384L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615566	NM_014278.4(HSPA4L):c.1342A>C (p.Asn448His)	HSPA4L (N479H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617944	NM_014278.4(HSPA4L):c.1402T>A (p.Phe468Ile)	HSPA4L (F468I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299431	NM_014278.4(HSPA4L):c.1482C>A (p.Ser494Arg)	HSPA4L (S453R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226724	NM_014278.4(HSPA4L):c.1516G>C (p.Asp506His)	HSPA4L (D465H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291522	NM_014278.4(HSPA4L):c.1648A>G (p.Ile550Val)	HSPA4L (I581V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374548	NM_014278.4(HSPA4L):c.1685C>T (p.Ser562Leu)	HSPA4L (S562L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387477	NM_014278.4(HSPA4L):c.1757G>A (p.Ser586Asn)	HSPA4L (S617N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471662	NM_014278.4(HSPA4L):c.1898A>T (p.Asp633Val)	HSPA4L (D592V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362749	NM_014278.4(HSPA4L):c.2017G>A (p.Val673Ile)	HSPA4L (V673I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2358042	NM_014278.4(HSPA4L):c.2138T>C (p.Met713Thr)	HSPA4L (M687T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530130	NM_014278.4(HSPA4L):c.2151A>C (p.Glu717Asp)	HSPA4L (E717D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522384	NM_014278.4(HSPA4L):c.2216A>C (p.Lys739Thr)	HSPA4L (K698T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545358	NM_014278.4(HSPA4L):c.2219G>A (p.Cys740Tyr)	HSPA4L (C714Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2469570	NM_014278.4(HSPA4L):c.2237G>A (p.Ser746Asn)	HSPA4L (S705N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2207325	NM_014278.4(HSPA4L):c.2345G>A (p.Cys782Tyr)	HSPA4L (C741Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 28