MDGA1[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 2216210	NM_153487.4(MDGA1):c.2855C>T (p.Ala952Val)	MDGA1 (A952V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518340	NM_153487.4(MDGA1):c.2801C>T (p.Ala934Val)	MDGA1 (A934V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220517	NM_153487.4(MDGA1):c.2753G>A (p.Arg918Gln)	MDGA1 (R918Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 791448	NM_153487.4(MDGA1):c.2721T>C (p.Asp907=)	MDGA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 724732	NM_153487.4(MDGA1):c.2694G>T (p.Pro898=)	MDGA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2513609	NM_153487.4(MDGA1):c.2693C>T (p.Pro898Leu)	MDGA1 (P898L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 218340	NM_153487.4(MDGA1):c.2674T>G (p.Phe892Val)	MDGA1 (F892V)	Single nucleotide variant (missense variant)	Acute megakaryoblastic leukemia +1 more	GUncertain significance
Select item 2656526	NM_153487.4(MDGA1):c.2649C>T (p.Ser883=)	MDGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2225847	NM_153487.4(MDGA1):c.2540C>T (p.Ser847Phe)	MDGA1 (S847F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324994	NM_153487.4(MDGA1):c.2480C>A (p.Ala827Asp)	MDGA1 (A827D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403017	NM_153487.4(MDGA1):c.2440C>A (p.Leu814Met)	MDGA1 (L814M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310753	NM_153487.4(MDGA1):c.2407T>C (p.Tyr803His)	MDGA1 (Y803H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 218851	NM_153487.4(MDGA1):c.2335C>T (p.Leu779Phe)	MDGA1 (L779F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369427	NM_153487.4(MDGA1):c.2203C>T (p.Arg735Cys)	MDGA1 (R735C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591330	NM_153487.4(MDGA1):c.2194A>G (p.Met732Val)	MDGA1 (M732V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 786087	NM_153487.4(MDGA1):c.2154G>C (p.Glu718Asp)	MDGA1 (E718D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2226219	NM_153487.4(MDGA1):c.1844G>T (p.Cys615Phe)	MDGA1 (C615F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479678	NM_153487.4(MDGA1):c.1786G>A (p.Asp596Asn)	MDGA1 (D596N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509188	NM_153487.4(MDGA1):c.1745T>C (p.Leu582Pro)	MDGA1 (L582P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256095	NM_153487.4(MDGA1):c.1715C>T (p.Ser572Leu)	MDGA1 (S572L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340143	NM_153487.4(MDGA1):c.1660C>T (p.Arg554Trp)	MDGA1 (R554W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380133	NM_153487.4(MDGA1):c.1642G>A (p.Val548Met)	MDGA1 (V548M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515559	NM_153487.4(MDGA1):c.1634C>T (p.Ser545Phe)	MDGA1 (S545F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783460	NM_153487.4(MDGA1):c.1602C>T (p.Asn534=)	MDGA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2410682	NM_153487.4(MDGA1):c.1284C>G (p.Ser428Arg)	MDGA1 (S428R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385727	NM_153487.4(MDGA1):c.1276G>T (p.Asp426Tyr)	MDGA1 (D426Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297594	NM_153487.4(MDGA1):c.1262G>A (p.Gly421Glu)	MDGA1 (G421E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411070	NM_153487.4(MDGA1):c.776C>T (p.Thr259Met)	MDGA1 (T259M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218030	NM_153487.4(MDGA1):c.667G>A (p.Gly223Ser)	MDGA1 (G223S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314410	NM_153487.4(MDGA1):c.536G>A (p.Ser179Asn)	MDGA1 (S179N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606364	NM_153487.4(MDGA1):c.511C>T (p.Arg171Trp)	MDGA1 (R171W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306069	NM_153487.4(MDGA1):c.491C>T (p.Pro164Leu)	MDGA1 (P164L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305042	NM_153487.4(MDGA1):c.293T>C (p.Ile98Thr)	MDGA1 (I98T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264440	NM_153487.4(MDGA1):c.241G>T (p.Asp81Tyr)	MDGA1 (D81Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210407	NM_153487.4(MDGA1):c.151C>T (p.Arg51Trp)	MDGA1 (R51W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305511	NM_153487.4(MDGA1):c.136C>T (p.Arg46Cys)	MDGA1 (R46C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656527	NM_153487.4(MDGA1):c.135G>A (p.Glu45=)	MDGA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2343706	NM_153487.4(MDGA1):c.104C>T (p.Ala35Val)	MDGA1 (A35V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224992	NM_153487.4(MDGA1):c.88G>A (p.Val30Met)	MDGA1 (V30M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603736	NM_153487.4(MDGA1):c.11C>T (p.Thr4Ile)	MDGA1 (T4I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062895	GRCh37/hg19 6p21.2(chr6:37160048-38287691)x3	BTBD9, CCDC167 +6 more	Copy number gain	not specified	GUncertain significance
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 1340999	GRCh37/hg19 6p21.2(chr6:37485973-38275476)x3	BTBD9, MDGA1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic

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Items: 48