MARVELD1[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 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
Select item 2296051	NM_031484.4(MARVELD1):c.13C>T (p.Pro5Ser)	MARVELD1 (P5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398090	NM_031484.4(MARVELD1):c.17C>G (p.Pro6Arg)	MARVELD1 (P6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602517	NM_031484.4(MARVELD1):c.62G>C (p.Arg21Pro)	MARVELD1 (R21P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123701	NM_031484.4(MARVELD1):c.94G>A (p.Gly32Ser)	MARVELD1 (G32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123698	NM_031484.4(MARVELD1):c.220G>A (p.Gly74Ser)	MARVELD1 (G74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123699	NM_031484.4(MARVELD1):c.232C>T (p.Leu78Phe)	MARVELD1 (L78F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285738	NM_031484.4(MARVELD1):c.277C>T (p.Arg93Cys)	MARVELD1 (R93C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293353	NM_031484.4(MARVELD1):c.340G>A (p.Gly114Ser)	MARVELD1 (G114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123700	NM_031484.4(MARVELD1):c.380A>G (p.Asn127Ser)	MARVELD1 (N127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457881	NM_031484.4(MARVELD1):c.427G>A (p.Ala143Thr)	MARVELD1 (A143T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535400	NM_031484.4(MARVELD1):c.428C>G (p.Ala143Gly)	MARVELD1 (A143G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515987	NM_031484.4(MARVELD1):c.485G>T (p.Cys162Phe)	MARVELD1 (C162F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
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 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	CPN1, CRTAC1 +95 more	Duplication	not provided	GUncertain significance
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 563698	GRCh37/hg19 10q24.2(chr10:99476328-99552148)x1	MARVELD1, SFRP5 +1 more	Copy number loss	not provided	GUncertain significance
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 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)	INA, INPP5A +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 441822	GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1	ABCC2, ACSM6 +76 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 253903	GRCh37/hg19 10q24.2(chr10:99435773-99590136)x3	ZFYVE27, AVPI1 +3 more	Copy number gain	See cases	GUncertain significance

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Items: 32