HSPA4[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	ACSL6, ACSL6-AS1 +263 more	Copy number loss	See cases	GPathogenic
Select item 58360	GRCh38/hg38 5q31.1(chr5:132816203-135383158)x1	AFF4, AFF4-DT +147 more	Copy number loss	See cases	GPathogenic
Select item 725437	NM_002154.4(HSPA4):c.96C>T (p.Asp32=)	HSPA4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2618512	NM_002154.4(HSPA4):c.191T>C (p.Val64Ala)	HSPA4 (V64A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284939	NM_002154.4(HSPA4):c.214G>C (p.Gly72Arg)	HSPA4 (G72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107321	NM_002154.4(HSPA4):c.311C>A (p.Thr104Lys)	HSPA4 (T104K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2493621	NM_002154.4(HSPA4):c.316A>T (p.Met106Leu)	HSPA4 (M106L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284944	NM_002154.4(HSPA4):c.341C>T (p.Thr114Ile)	HSPA4 (T114I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709819	NM_002154.4(HSPA4):c.453A>G (p.Ala151=)	HSPA4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 747592	NM_002154.4(HSPA4):c.528A>G (p.Ala176=)	HSPA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769307	NM_002154.4(HSPA4):c.594A>C (p.Val198=)	HSPA4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783445	NM_002154.4(HSPA4):c.664-4T>A	HSPA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3107322	NM_002154.4(HSPA4):c.686C>T (p.Thr229Met)	HSPA4 (T229M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714996	NM_002154.4(HSPA4):c.826T>C (p.Leu276=)	HSPA4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2334246	NM_002154.4(HSPA4):c.829A>T (p.Met277Leu)	HSPA4 (M277L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284940	NM_002154.4(HSPA4):c.932A>G (p.Asn311Ser)	HSPA4 (N311S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242062	NM_002154.4(HSPA4):c.969T>G (p.Ser323Arg)	HSPA4 (S323R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546820	NM_002154.4(HSPA4):c.1237G>T (p.Gly413Trp)	HSPA4 (G413W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552892	NM_002154.4(HSPA4):c.1262C>G (p.Ser421Cys)	HSPA4 (S421C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284943	NM_002154.4(HSPA4):c.1277C>T (p.Ala426Val)	HSPA4 (A426V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516772	NM_002154.4(HSPA4):c.1304A>G (p.Tyr435Cys)	HSPA4 (Y435C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617111	NM_002154.4(HSPA4):c.1567C>G (p.Gln523Glu)	HSPA4 (Q523E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617112	NM_002154.4(HSPA4):c.1596A>T (p.Glu532Asp)	HSPA4 (E532D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770722	NM_002154.4(HSPA4):c.1651-10A>G	HSPA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2299863	NM_002154.4(HSPA4):c.1670A>G (p.Lys557Arg)	HSPA4 (K557R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546487	NM_002154.4(HSPA4):c.1672G>A (p.Asp558Asn)	HSPA4 (D558N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466191	NM_002154.4(HSPA4):c.1741A>G (p.Ile581Val)	HSPA4 (I581V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107314	NM_002154.4(HSPA4):c.1759T>C (p.Trp587Arg)	HSPA4 (W587R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250516	NM_002154.4(HSPA4):c.1833G>A (p.Glu611=)	HSPA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3284942	NM_002154.4(HSPA4):c.1840C>T (p.Arg614Trp)	HSPA4 (R614W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107315	NM_002154.4(HSPA4):c.1881A>T (p.Glu627Asp)	HSPA4 (E627D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107316	NM_002154.4(HSPA4):c.1945A>G (p.Thr649Ala)	HSPA4 (T649A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770356	NM_002154.4(HSPA4):c.1946C>G (p.Thr649Ser)	HSPA4 (T649S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2345093	NM_002154.4(HSPA4):c.1961A>G (p.Asp654Gly)	HSPA4 (D654G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107317	NM_002154.4(HSPA4):c.2059A>G (p.Ile687Val)	HSPA4 (I687V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509558	NM_002154.4(HSPA4):c.2069A>G (p.Gln690Arg)	HSPA4 (Q690R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784628	NM_002154.4(HSPA4):c.2086C>T (p.Pro696Ser)	HSPA4 (P696S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3107318	NM_002154.4(HSPA4):c.2120A>C (p.Gln707Pro)	HSPA4 (Q707P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284938	NM_002154.4(HSPA4):c.2137A>G (p.Ile713Val)	HSPA4 (I713V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239934	NM_002154.4(HSPA4):c.2161G>T (p.Asp721Tyr)	HSPA4 (D721Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107319	NM_002154.4(HSPA4):c.2168A>G (p.Tyr723Cys)	HSPA4 (Y723C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107320	NM_002154.4(HSPA4):c.2258A>G (p.Asn753Ser)	HSPA4 (N753S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514886	NM_002154.4(HSPA4):c.2271G>C (p.Leu757Phe)	HSPA4 (L757F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378391	NM_002154.4(HSPA4):c.2301G>C (p.Glu767Asp)	HSPA4 (E767D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284941	NM_002154.4(HSPA4):c.2333C>T (p.Thr778Ile)	HSPA4 (T778I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2240765	NM_002154.4(HSPA4):c.2461G>A (p.Gly821Ser)	HSPA4 (G821S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511676	NM_002154.4(HSPA4):c.2515A>G (p.Ile839Val)	HSPA4 (I839V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242297	GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1	FSTL4, GDF9 +63 more	Copy number loss	not provided	GPathogenic
Select item 2506534	GRCh37/hg19 5q23.3-31.1(chr5:127800418-134002686)	ACSL6, ADAMTS19 +44 more	Copy number loss	Houge-Janssens syndrome 3	GPathogenic
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
Select item 1340293	GRCh37/hg19 5q31.1(chr5:132181132-132605222)x3	AFF4, FSTL4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 559504	GRCh37/hg19 5q31.1(chr5:131484039-132998360)x3	SLC22A4, LEAP2 +19 more	Copy number gain	Blepharophimosis +5 more	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 63