"Ambry Genetics"[submitter] AND "HSPA14"[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 3107291	NM_016299.4(HSPA14):c.49G>C (p.Val17Leu)	HSPA14, LOC130003414 +1 more (V17L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2306900	NM_016299.4(HSPA14):c.88G>A (p.Ala30Thr)	HSPA14, MSANTD7 (A30T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3107286	NM_016299.4(HSPA14):c.232C>A (p.Pro78Thr)	HSPA14 (P78T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284926	NM_016299.4(HSPA14):c.252C>G (p.Ile84Met)	HSPA14 (I84M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107287	NM_016299.4(HSPA14):c.253G>A (p.Ala85Thr)	HSPA14 (A85T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3107288	NM_016299.4(HSPA14):c.269T>C (p.Leu90Ser)	HSPA14 (L90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284925	NM_016299.4(HSPA14):c.296G>A (p.Arg99Gln)	HSPA14 (R99Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107289	NM_016299.4(HSPA14):c.401C>T (p.Ser134Leu)	HSPA14 (S134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241826	NM_016299.4(HSPA14):c.407C>G (p.Ala136Gly)	HSPA14 (A136G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107290	NM_016299.4(HSPA14):c.451C>A (p.Gln151Lys)	HSPA14 (Q151K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461422	NM_016299.4(HSPA14):c.559C>G (p.Pro187Ala)	HSPA14 (P187A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332438	NM_016299.4(HSPA14):c.595G>C (p.Gly199Arg)	HSPA14 (G199R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337504	NM_016299.4(HSPA14):c.623T>C (p.Met208Thr)	HSPA14 (M208T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269204	NM_016299.4(HSPA14):c.658A>G (p.Thr220Ala)	HSPA14 (T220A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254754	NM_016299.4(HSPA14):c.974C>T (p.Thr325Ile)	HSPA14 (T325I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290785	NM_016299.4(HSPA14):c.980A>T (p.Asp327Val)	HSPA14 (D327V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107284	NM_016299.4(HSPA14):c.1043T>C (p.Ile348Thr)	HSPA14, SUV39H2-DT (I348T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2535201	NM_016299.4(HSPA14):c.1118T>C (p.Ile373Thr)	HSPA14, SUV39H2-DT (I373T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257459	NM_016299.4(HSPA14):c.1123G>T (p.Ala375Ser)	HSPA14, SUV39H2-DT (A375S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284928	NM_016299.4(HSPA14):c.1136T>C (p.Ile379Thr)	HSPA14, SUV39H2-DT (I379T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2234282	NM_016299.4(HSPA14):c.1155G>C (p.Leu385Phe)	HSPA14, SUV39H2-DT (L385F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300669	NM_016299.4(HSPA14):c.1177G>C (p.Glu393Gln)	HSPA14, SUV39H2-DT (E393Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298411	NM_016299.4(HSPA14):c.1210G>C (p.Val404Leu)	HSPA14, SUV39H2-DT (V404L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531978	NM_016299.4(HSPA14):c.1274G>A (p.Arg425Gln)	HSPA14, SUV39H2-DT (R425Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306500	NM_016299.4(HSPA14):c.1278A>C (p.Arg426Ser)	HSPA14, SUV39H2-DT (R426S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547740	NM_016299.4(HSPA14):c.1366A>G (p.Thr456Ala)	HSPA14, SUV39H2-DT (T456A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107285	NM_016299.4(HSPA14):c.1488A>C (p.Glu496Asp)	HSPA14, SUV39H2-DT (E496D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284927	NM_016299.4(HSPA14):c.1513A>G (p.Ile505Val)	HSPA14, SUV39H2-DT (I505V)	Single nucleotide variant (missense variant)	not specified	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