3064[HGNC] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 2516594	NM_004417.4(DUSP1):c.1087A>G (p.Thr363Ala)	DUSP1 (T363A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086233	NM_004417.4(DUSP1):c.1012G>T (p.Val338Leu)	DUSP1 (V338L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274034	NM_004417.4(DUSP1):c.988G>C (p.Asp330His)	DUSP1 (D330H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302304	NM_004417.4(DUSP1):c.953C>G (p.Ser318Trp)	DUSP1 (S318W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242886	NM_004417.4(DUSP1):c.950G>T (p.Cys317Phe)	DUSP1 (C317F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728467	NM_004417.4(DUSP1):c.855T>C (p.Phe285=)	DUSP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3086242	NM_004417.4(DUSP1):c.745A>G (p.Asn249Asp)	DUSP1 (N249D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086241	NM_004417.4(DUSP1):c.736T>G (p.Ser246Ala)	DUSP1 (S246A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086240	NM_004417.4(DUSP1):c.662A>G (p.Lys221Arg)	DUSP1 (K221R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086239	NM_004417.4(DUSP1):c.604G>A (p.Ala202Thr)	DUSP1 (A202T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274036	NM_004417.4(DUSP1):c.589G>T (p.Ala197Ser)	DUSP1 (A197S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086238	NM_004417.4(DUSP1):c.589G>A (p.Ala197Thr)	DUSP1 (A197T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086237	NM_004417.4(DUSP1):c.473A>G (p.Glu158Gly)	DUSP1 (E158G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086235	NM_004417.4(DUSP1):c.454A>G (p.Ser152Gly)	DUSP1 (S152G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274035	NM_004417.4(DUSP1):c.403C>G (p.Leu135Val)	DUSP1 (L135V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742343	NM_004417.4(DUSP1):c.342C>G (p.Arg114=)	DUSP1, LOC129995282	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3086234	NM_004417.4(DUSP1):c.325C>T (p.Leu109Phe)	DUSP1, LOC129995282 (L109F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495230	NM_004417.4(DUSP1):c.275C>A (p.Ala92Asp)	DUSP1 (A92D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517378	NM_004417.4(DUSP1):c.179T>C (p.Met60Thr)	DUSP1, LOC110121211 (M60T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287717	NM_004417.4(DUSP1):c.175G>T (p.Ala59Ser)	DUSP1, LOC110121211 (A59S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274033	NM_004417.4(DUSP1):c.113G>C (p.Gly38Ala)	DUSP1, LOC110121211 (G38A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246450	NC_000005.9:g.(?_171765373)_(172550225_?)del	ATP6V0E1, CREBRF +6 more	Deletion	not provided	GPathogenic
Select item 3246360	NC_000005.9:g.(?_171765373)_(172662086_?)del	ATP6V0E1, BNIP1 +8 more	Deletion	Atrial septal defect 7	GPathogenic
Select item 2685184	GRCh37/hg19 5q35.1-35.2(chr5:171836503-176517734)x1	ARL10, ATP6V0E1 +37 more	Copy number loss	not provided	GPathogenic
Select item 2425102	NC_000005.9:g.(?_172089144)_(172774583_?)del	ATP6V0E1, BNIP1 +8 more	Deletion	Atrial septal defect 7	GPathogenic
Select item 2423474	NC_000005.9:g.(?_171765373)_(172939426_?)dup	ATP6V0E1, BNIP1 +9 more	Duplication	not provided	GUncertain significance
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1711097	GRCh37/hg19 5q35.1-35.3(chr5:170350336-180719789)x3	ADAMTS2, ARL10 +117 more	Copy number gain	See cases	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1527205	GRCh37/hg19 5q34-35.1(chr5:164207156-172799124)	ATP6V0E1, BNIP1 +35 more	Copy number loss	not specified	GPathogenic
Select item 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 692223	GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1	SPDL1, TENM2 +37 more	Copy number loss	Atrial septal defect 7	GPathogenic
Select item 684725	NC_000005.9:g.172068277_172342131dup	DUSP1, ERGIC1 +1 more	Duplication	Congenital hydrocephalus	GUncertain significance
Select item 442855	GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3	ADAMTS2, ARL10 +106 more	Copy number gain	See cases	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
Select item 221448	GRCh37/hg19 5q35.1(chr5:172097061-172421802)x3	ATP6V0E1, DUSP1 +3 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 44