5271[HGNC] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152302	GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1	ATL3, BAD +107 more	Copy number loss	See cases	GLikely pathogenic
Select item 2234844	NM_005528.4(DNAJC4):c.55T>C (p.Ser19Pro)	DNAJC4, LOC130005918 (S19P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544841	NM_005528.4(DNAJC4):c.118G>T (p.Gly40Trp)	DNAJC4 (G40W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273136	NM_005528.4(DNAJC4):c.140C>G (p.Thr47Ser)	DNAJC4 (T47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370548	NM_005528.4(DNAJC4):c.224G>A (p.Arg75His)	DNAJC4 (R75H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363674	NM_005528.4(DNAJC4):c.229G>T (p.Val77Leu)	DNAJC4 (V77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527279	NM_005528.4(DNAJC4):c.265G>A (p.Glu89Lys)	DNAJC4 (E89K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324804	NM_005528.4(DNAJC4):c.266A>G (p.Glu89Gly)	DNAJC4 (E89G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084583	NM_005528.4(DNAJC4):c.275G>A (p.Arg92His)	DNAJC4 (R92H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456704	NM_005528.4(DNAJC4):c.278G>A (p.Arg93His)	DNAJC4 (R93H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516065	NM_005528.4(DNAJC4):c.299G>A (p.Arg100His)	DNAJC4 (R100H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084584	NM_005528.4(DNAJC4):c.392A>T (p.Tyr131Phe)	DNAJC4 (Y131F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386968	NM_005528.4(DNAJC4):c.557T>C (p.Met186Thr)	DNAJC4 (M186T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236977	NM_005528.4(DNAJC4):c.599C>A (p.Ala200Asp)	DNAJC4 (A201D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490190	NM_005528.4(DNAJC4):c.601C>T (p.Arg201Trp)	DNAJC4 (R202W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084585	NM_005528.4(DNAJC4):c.608G>C (p.Arg203Pro)	DNAJC4 (R203P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236978	NM_005528.4(DNAJC4):c.643C>G (p.Arg215Gly)	DNAJC4 (S245R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273137	NM_005528.4(DNAJC4):c.644G>A (p.Arg215Gln)	DNAJC4 (D247N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2458580	NM_005528.4(DNAJC4):c.653T>C (p.Leu218Pro)	DNAJC4 (L218P)	Single nucleotide variant (stop lost +1 more)	not specified	GUncertain significance
Select item 2216802	NM_005528.4(DNAJC4):c.709C>T (p.Arg237Trp)	DNAJC4, LOC130005919 (R237W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3084587	NM_005528.4(DNAJC4):c.710G>A (p.Arg237Gln)	DNAJC4, LOC130005919 (R237Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3084588	NM_005528.4(DNAJC4):c.719G>A (p.Gly240Asp)	DNAJC4, LOC130005919 (G240D)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3244550	NC_000011.9:g.(?_63731700)_(64572142_?)del	BAD, CATSPERZ +28 more	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685408	GRCh37/hg19 11q13.1(chr11:63643711-64533636)x1	BAD, CATSPERZ +29 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 634998	dup(11)(q13.1q13.1)	ATG2A, BAD +74 more	Duplication	Ependymoma	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 221479	GRCh37/hg19 11q13.1(chr11:63995089-64012419)x3	DNAJC4, FKBP2 +3 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 33