HSPA4L[gene] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 145990	GRCh38/hg38 4q28.1-28.3(chr4:125118620-132773079)x1	ABHD18, C4orf33 +113 more	Copy number loss	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148326	GRCh38/hg38 4q28.1-28.2(chr4:127371061-127994046)x1	ABHD18, HSPA4L +22 more	Copy number loss	See cases	GUncertain significance
Select item 152772	GRCh38/hg38 4q28.1(chr4:127699317-127837482)x1	HSPA4L, INTU +7 more	Copy number loss	See cases	GUncertain significance
Select item 60198	GRCh38/hg38 4q28.1-28.2(chr4:127788856-128114180)x1	ABHD18, HSPA4L +15 more	Copy number loss	See cases	GUncertain significance
Select item 2457436	NM_014278.4(HSPA4L):c.173C>T (p.Thr58Met)	HSPA4L (T58M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711912	NM_014278.4(HSPA4L):c.177C>T (p.Asn59=)	HSPA4L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2568068	NM_014278.4(HSPA4L):c.179T>C (p.Val60Ala)	HSPA4L (V34A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327841	NM_014278.4(HSPA4L):c.252G>T (p.Arg84Ser)	HSPA4L (R115S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327842	NM_014278.4(HSPA4L):c.253A>T (p.Ile85Phe)	HSPA4L (I116F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107332	NM_014278.4(HSPA4L):c.272T>C (p.Leu91Pro)	HSPA4L (L91P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334813	NM_014278.4(HSPA4L):c.293G>C (p.Ser98Thr)	HSPA4L (S129T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370662	NM_014278.4(HSPA4L):c.311G>A (p.Arg104Gln)	HSPA4L (R135Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552267	NM_014278.4(HSPA4L):c.319G>C (p.Glu107Gln)	HSPA4L (E107Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512810	NM_014278.4(HSPA4L):c.340A>G (p.Ile114Val)	HSPA4L (I114V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319525	NM_014278.4(HSPA4L):c.415G>C (p.Asp139His)	HSPA4L (D170H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655089	NM_014278.4(HSPA4L):c.539C>T (p.Ala180Val)	HSPA4L (A139V +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2322432	NM_014278.4(HSPA4L):c.579G>T (p.Glu193Asp)	HSPA4L (E193D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599169	NM_014278.4(HSPA4L):c.583C>G (p.Pro195Ala)	HSPA4L (P195A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107333	NM_014278.4(HSPA4L):c.794G>A (p.Arg265His)	HSPA4L (R224H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284946	NM_014278.4(HSPA4L):c.835G>A (p.Ala279Thr)	HSPA4L (A253T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107323	NM_014278.4(HSPA4L):c.1066A>G (p.Lys356Glu)	HSPA4L (K356E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284947	NM_014278.4(HSPA4L):c.1190T>G (p.Leu397Arg)	HSPA4L (L428R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484027	NM_014278.4(HSPA4L):c.1238G>A (p.Gly413Glu)	HSPA4L (G387E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281122	NM_014278.4(HSPA4L):c.1274C>T (p.Pro425Leu)	HSPA4L (P384L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615566	NM_014278.4(HSPA4L):c.1342A>C (p.Asn448His)	HSPA4L (N479H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617944	NM_014278.4(HSPA4L):c.1402T>A (p.Phe468Ile)	HSPA4L (F468I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299431	NM_014278.4(HSPA4L):c.1482C>A (p.Ser494Arg)	HSPA4L (S453R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655090	NM_014278.4(HSPA4L):c.1515C>T (p.Gly505=)	HSPA4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2226724	NM_014278.4(HSPA4L):c.1516G>C (p.Asp506His)	HSPA4L (D465H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107324	NM_014278.4(HSPA4L):c.1577T>C (p.Met526Thr)	HSPA4L (M526T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291522	NM_014278.4(HSPA4L):c.1648A>G (p.Ile550Val)	HSPA4L (I581V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374548	NM_014278.4(HSPA4L):c.1685C>T (p.Ser562Leu)	HSPA4L (S562L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107326	NM_014278.4(HSPA4L):c.1737T>G (p.Ser579Arg)	HSPA4L (S538R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387477	NM_014278.4(HSPA4L):c.1757G>A (p.Ser586Asn)	HSPA4L (S617N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107327	NM_014278.4(HSPA4L):c.1821G>A (p.Met607Ile)	HSPA4L (M581I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471662	NM_014278.4(HSPA4L):c.1898A>T (p.Asp633Val)	HSPA4L (D592V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284945	NM_014278.4(HSPA4L):c.1948A>C (p.Lys650Gln)	HSPA4L (K681Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362749	NM_014278.4(HSPA4L):c.2017G>A (p.Val673Ile)	HSPA4L (V673I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3107328	NM_014278.4(HSPA4L):c.2038G>A (p.Glu680Lys)	HSPA4L (E654K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771363	NM_014278.4(HSPA4L):c.2052C>T (p.Tyr684=)	HSPA4L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2358042	NM_014278.4(HSPA4L):c.2138T>C (p.Met713Thr)	HSPA4L (M687T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530130	NM_014278.4(HSPA4L):c.2151A>C (p.Glu717Asp)	HSPA4L (E717D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107329	NM_014278.4(HSPA4L):c.2185C>G (p.Leu729Val)	HSPA4L (L688V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522384	NM_014278.4(HSPA4L):c.2216A>C (p.Lys739Thr)	HSPA4L (K698T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545358	NM_014278.4(HSPA4L):c.2219G>A (p.Cys740Tyr)	HSPA4L (C714Y +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2469570	NM_014278.4(HSPA4L):c.2237G>A (p.Ser746Asn)	HSPA4L (S705N +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2207325	NM_014278.4(HSPA4L):c.2345G>A (p.Cys782Tyr)	HSPA4L (C741Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655091	NM_014278.4(HSPA4L):c.2421T>C (p.Asn807=)	HSPA4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3107330	NM_014278.4(HSPA4L):c.2423G>A (p.Gly808Asp)	HSPA4L (G782D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107331	NM_014278.4(HSPA4L):c.2429T>C (p.Met810Thr)	HSPA4L (M769T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284948	NM_014278.4(HSPA4L):c.2435G>T (p.Gly812Val)	HSPA4L (G812V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	CAMK2D, GIMD1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 1527119	GRCh37/hg19 4q26-28.2(chr4:116888785-129649979)	ABHD18, ADAD1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1328453	GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1	TNIP3, TRPC3 +48 more	Copy number loss	not provided	GPathogenic
Select item 1069575	NC_000004.11:g.(?_128544537)_(129131208_?)del	LARP1B, INTU +5 more	Deletion	Neuronal ceroid lipofuscinosis 7	GPathogenic
Select item 1047888	GRCh37/hg19 4q26-28.2(chr4:116833638-130232122)	MAD2L1, METTL14 +43 more	Copy number loss	Delayed speech and language development +1 more	GPathogenic
Select item 1042914	NC_000004.11:g.(?_128554190)_(128886288_?)dup	HSPA4L, INTU +3 more	Duplication	not provided	GUncertain significance
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 562959	GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1	ABHD18, ADAD1 +40 more	Copy number loss	not provided	GPathogenic
Select item 560144	Single allele	ABHD18, C4orf33 +24 more	Deletion	not provided	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic

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Items: 77