ClinVar for Gene (Select 259217) - ClinVar

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Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3107267	NM_025015.3(HSPA12A):c.829A>T (p.Thr277Ser)	HSPA12A (T277S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107266	NM_025015.3(HSPA12A):c.721G>A (p.Ala241Thr)	HSPA12A (A241T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107265	NM_025015.3(HSPA12A):c.527T>G (p.Phe176Cys)	HSPA12A (F193C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107264	NM_025015.3(HSPA12A):c.1978A>G (p.Ile660Val)	HSPA12A (I660V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107263	NM_025015.3(HSPA12A):c.1757G>A (p.Arg586His)	HSPA12A (R586H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107262	NM_025015.3(HSPA12A):c.1570G>T (p.Asp524Tyr)	HSPA12A (D524Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107261	NM_025015.3(HSPA12A):c.1411G>A (p.Glu471Lys)	HSPA12A (E471K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107259	NM_025015.3(HSPA12A):c.1348G>A (p.Ala450Thr)	HSPA12A, LOC113939914 (A450T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107258	NM_025015.3(HSPA12A):c.1133C>G (p.Ala378Gly)	HSPA12A (A395G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2606812	NM_001242699.2(ENO4):c.152T>C (p.Val51Ala)	ENO4, HSPA12A (V51A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2602047	NM_025015.3(HSPA12A):c.818G>C (p.Gly273Ala)	HSPA12A (G273A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594266	NM_025015.3(HSPA12A):c.1066G>A (p.Glu356Lys)	HSPA12A (E356K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591362	NM_025015.3(HSPA12A):c.1621G>A (p.Val541Met)	HSPA12A (V541M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2547465	NM_025015.3(HSPA12A):c.697C>G (p.Leu233Val)	HSPA12A (L233V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510906	NM_025015.3(HSPA12A):c.1371T>A (p.Asp457Glu)	HSPA12A, LOC113939914 (D457E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494493	NM_025015.3(HSPA12A):c.1456G>A (p.Glu486Lys)	HSPA12A (E486K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491284	NM_025015.3(HSPA12A):c.938T>C (p.Val313Ala)	HSPA12A (V313A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474665	NM_025015.3(HSPA12A):c.749G>A (p.Arg250Gln)	HSPA12A (R267Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399293	NM_025015.3(HSPA12A):c.1349C>T (p.Ala450Val)	HSPA12A, LOC113939914 (A450V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391549	NM_025015.3(HSPA12A):c.902T>C (p.Ile301Thr)	HSPA12A (I318T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391230	NM_001242699.2(ENO4):c.150C>A (p.Asp50Glu)	ENO4, HSPA12A (D50E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2387488	NM_025015.3(HSPA12A):c.1979T>C (p.Ile660Thr)	HSPA12A (I660T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371569	NM_025015.3(HSPA12A):c.1576G>A (p.Ala526Thr)	HSPA12A (A543T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366890	NM_025015.3(HSPA12A):c.1684C>T (p.Arg562Trp)	HSPA12A (R562W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363311	NM_025015.3(HSPA12A):c.613G>A (p.Ala205Thr)	HSPA12A (A205T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350580	NM_025015.3(HSPA12A):c.31G>T (p.Gly11Trp)	HSPA12A (G11W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335352	NM_025015.3(HSPA12A):c.568T>G (p.Ser190Ala)	HSPA12A (S207A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332395	NM_025015.3(HSPA12A):c.961G>A (p.Val321Ile)	HSPA12A (V321I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323023	NM_025015.3(HSPA12A):c.1699G>A (p.Val567Ile)	HSPA12A (V567I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310593	NM_025015.3(HSPA12A):c.1945G>A (p.Gly649Arg)	HSPA12A (G649R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303831	NM_001242699.2(ENO4):c.65A>G (p.Gln22Arg)	ENO4, HSPA12A (Q22R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2297889	NM_025015.3(HSPA12A):c.569C>T (p.Ser190Leu)	HSPA12A (S207L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259842	NM_025015.3(HSPA12A):c.802G>A (p.Gly268Ser)	HSPA12A (G268S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2253853	NM_001242699.2(ENO4):c.112G>A (p.Glu38Lys)	ENO4, HSPA12A (E38K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2253715	NM_025015.3(HSPA12A):c.322G>A (p.Glu108Lys)	HSPA12A (E108K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252872	NM_025015.3(HSPA12A):c.1095G>T (p.Glu365Asp)	HSPA12A (E382D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242594	NM_025015.3(HSPA12A):c.1462C>T (p.Pro488Ser)	HSPA12A (P505S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235715	NM_001242699.2(ENO4):c.41G>C (p.Arg14Thr)	ENO4, HSPA12A (R14T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2232874	NM_025015.3(HSPA12A):c.231G>T (p.Glu77Asp)	HSPA12A (E77D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217668	NM_025015.3(HSPA12A):c.787G>A (p.Val263Ile)	HSPA12A (V263I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209724	NM_025015.3(HSPA12A):c.1508G>A (p.Arg503Gln)	HSPA12A (R503Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527606	GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066)	ACADSB, ARMS2 +54 more	Copy number loss	not specified	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 625556	GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806)	ACADSB, ARMS2 +54 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +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	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 253831	GRCh37/hg19 10q25.3(chr10:118327326-118486839)x1	HSPA12A, C10orf82 +3 more	Copy number loss	See cases	GUncertain significance
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	ABLIM1, ACSL5 +308 more	Copy number loss	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 57171	GRCh38/hg38 10q25.3(chr10:114584882-117015907)x1	ABLIM1, ATRNL1 +45 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 71