HSPA2-AS1[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	LOC132090233, LOC132090234 +264 more	Copy number loss	See cases	GPathogenic
Select item 149197	GRCh38/hg38 14q23.2-23.3(chr14:62252700-65753416)x1	AKAP5, CHURC1 +130 more	Copy number loss	See cases	GPathogenic
Select item 2324626	NM_001123329.2(ZBTB1):c.626C>T (p.Ser209Leu)	HSPA2-AS1, ZBTB1 (S209L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254804	NM_001123329.2(ZBTB1):c.739A>T (p.Thr247Ser)	HSPA2-AS1, ZBTB1 (T247S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191860	NM_001123329.2(ZBTB1):c.805G>A (p.Gly269Ser)	HSPA2-AS1, ZBTB1 (G269S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2543308	NM_001123329.2(ZBTB1):c.899G>A (p.Gly300Glu)	HSPA2-AS1, ZBTB1 (G300E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407905	NM_001123329.2(ZBTB1):c.940G>A (p.Glu314Lys)	HSPA2-AS1, ZBTB1 (E314K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191861	NM_001123329.2(ZBTB1):c.948A>C (p.Lys316Asn)	HSPA2-AS1, ZBTB1 (K316N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487628	NM_001123329.2(ZBTB1):c.1001T>C (p.Ile334Thr)	HSPA2-AS1, ZBTB1 (I334T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227482	NM_001123329.2(ZBTB1):c.1033A>G (p.Ile345Val)	HSPA2-AS1, ZBTB1 (I345V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191852	NM_001123329.2(ZBTB1):c.1066A>C (p.Thr356Pro)	HSPA2-AS1, ZBTB1 (T356P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191853	NM_001123329.2(ZBTB1):c.1172G>A (p.Arg391Gln)	HSPA2-AS1, ZBTB1 (R391Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191854	NM_001123329.2(ZBTB1):c.1197A>T (p.Arg399Ser)	HSPA2-AS1, ZBTB1 (R399S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370502	NM_001123329.2(ZBTB1):c.1250A>G (p.Asp417Gly)	HSPA2-AS1, ZBTB1 (D417G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523700	NM_001123329.2(ZBTB1):c.1272G>C (p.Glu424Asp)	HSPA2-AS1, ZBTB1 (E424D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191856	NM_001123329.2(ZBTB1):c.1286C>G (p.Thr429Arg)	HSPA2-AS1, ZBTB1 (T429R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191855	NM_001123329.2(ZBTB1):c.1286C>A (p.Thr429Lys)	HSPA2-AS1, ZBTB1 (T429K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191857	NM_001123329.2(ZBTB1):c.1306T>C (p.Ser436Pro)	HSPA2-AS1, ZBTB1 (S436P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191858	NM_001123329.2(ZBTB1):c.1451C>A (p.Thr484Asn)	HSPA2-AS1, ZBTB1 (T484N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314585	NM_001123329.2(ZBTB1):c.1505A>G (p.Asp502Gly)	HSPA2-AS1, ZBTB1 (D502G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366282	NM_001123329.2(ZBTB1):c.1506T>G (p.Asp502Glu)	HSPA2-AS1, ZBTB1 (D502E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218122	NM_001123329.2(ZBTB1):c.1509G>A (p.Met503Ile)	HSPA2-AS1, ZBTB1 (M503I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191859	NM_001123329.2(ZBTB1):c.1510T>G (p.Phe504Val)	HSPA2-AS1, ZBTB1 (F504V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245892	NM_001123329.2(ZBTB1):c.1640A>G (p.Asn547Ser)	HSPA2-AS1, ZBTB1 (N547S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286703	NM_001123329.2(ZBTB1):c.1984A>G (p.Thr662Ala)	HSPA2-AS1, ZBTB1 (T662A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364096	NM_001123329.2(ZBTB1):c.2010A>G (p.Ile670Met)	HSPA2-AS1, ZBTB1 (I670M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 29