HSPA14[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
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 59663	GRCh38/hg38 10p13(chr10:14844417-15150430)x3	RPP38-DT, SUV39H2 +23 more	Copy number gain	See cases	GPathogenic
Select item 764051	NM_016299.4(HSPA14):c.222-8A>G	HSPA14	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 781938	NM_016299.4(HSPA14):c.1167T>C (p.Ser389=)	HSPA14, SUV39H2-DT	Single nucleotide variant (synonymous variant)	not provided	GBenign
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
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1047870	GRCh37/hg19 10p14-13(chr10:9137489-17227168)	ACBD7, BEND7 +36 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 815319	GRCh37/hg19 10p13(chr10:14415692-14965689)x3	SUV39H2, HSPA14 +3 more	Copy number gain	not provided	GUncertain significance
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 50