MGAT1[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	ADAM19, ADAMTS2 +863 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 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	ADAMTS2, B4GALT7 +325 more	Copy number loss	See cases	GPathogenic
Select item 154193	GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3	ADAMTS2, BTNL3 +207 more	Copy number gain	See cases	GLikely pathogenic
Select item 57495	GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3	ADAMTS2, BTNL3 +203 more	Copy number gain	See cases	GUncertain significance
Select item 145959	GRCh38/hg38 5q35.3(chr5:179669736-180897169)x1	CANX, CBY3 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 146663	GRCh38/hg38 5q35.3(chr5:180581319-180846638)x3	FLT4, HEIH +16 more	Copy number gain	See cases	GBenign
Select item 147753	GRCh38/hg38 5q35.3(chr5:180636182-181269805)x3	BTNL3, BTNL8 +90 more	Copy number gain	See cases	GUncertain significance
Select item 144891	GRCh38/hg38 5q35.3(chr5:180764645-180859067)x3	HEIH, LINC00847 +11 more	Copy number gain	See cases	GBenign
Select item 765117	NM_002406.4(MGAT1):c.1299C>T (p.Pro433=)	MGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2375077	NM_002406.4(MGAT1):c.1279C>T (p.Arg427Cys)	MGAT1 (R427C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790025	NM_002406.4(MGAT1):c.1263C>T (p.Thr421=)	MGAT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2260547	NM_002406.4(MGAT1):c.1255A>G (p.Ile419Val)	MGAT1 (I419V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617922	NM_002406.4(MGAT1):c.1241C>G (p.Ala414Gly)	MGAT1 (A414G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125897	NM_002406.4(MGAT1):c.1226C>T (p.Ser409Leu)	MGAT1 (S409L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744628	NM_002406.4(MGAT1):c.1155G>A (p.Arg385=)	MGAT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3125896	NM_002406.4(MGAT1):c.1154G>A (p.Arg385Gln)	MGAT1 (R385Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556958	NM_002406.4(MGAT1):c.1133G>A (p.Arg378Gln)	MGAT1 (R378Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246497	NM_002406.4(MGAT1):c.1109T>G (p.Val370Gly)	MGAT1 (V370G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544402	NM_002406.4(MGAT1):c.1106A>G (p.Gln369Arg)	MGAT1 (Q369R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521056	NM_002406.4(MGAT1):c.1075C>T (p.Leu359Phe)	MGAT1 (L359F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264677	NM_002406.4(MGAT1):c.1010A>G (p.Gln337Arg)	MGAT1 (Q337R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297767	NM_002406.4(MGAT1):c.956T>C (p.Val319Ala)	MGAT1 (V319A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455082	NM_002406.4(MGAT1):c.853A>C (p.Lys285Gln)	MGAT1 (K285Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455079	NM_002406.4(MGAT1):c.842C>G (p.Pro281Arg)	MGAT1 (P281R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125900	NM_002406.4(MGAT1):c.716C>T (p.Ser239Leu)	MGAT1 (S239L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285741	NM_002406.4(MGAT1):c.697C>T (p.Pro233Ser)	MGAT1 (P233S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314676	NM_002406.4(MGAT1):c.613G>A (p.Ala205Thr)	MGAT1 (A205T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377320	NM_002406.4(MGAT1):c.592C>T (p.Arg198Trp)	MGAT1 (R198W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280502	NM_002406.4(MGAT1):c.566A>G (p.Tyr189Cys)	MGAT1 (Y189C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246498	NM_002406.4(MGAT1):c.553A>T (p.Ile185Phe)	MGAT1 (I185F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335897	NM_002406.4(MGAT1):c.529C>T (p.Arg177Cys)	MGAT1 (R177C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591684	NM_002406.4(MGAT1):c.496G>A (p.Asp166Asn)	MGAT1 (D166N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125899	NM_002406.4(MGAT1):c.467G>C (p.Gly156Ala)	MGAT1 (G156A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713310	NM_002406.4(MGAT1):c.444G>A (p.Thr148=)	MGAT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2274032	NM_002406.4(MGAT1):c.362G>C (p.Cys121Ser)	MGAT1 (C121S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530613	NM_002406.4(MGAT1):c.289G>A (p.Val97Met)	MGAT1 (V97M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363023	NM_002406.4(MGAT1):c.226G>A (p.Gly76Arg)	MGAT1 (G76R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 790573	NM_002406.4(MGAT1):c.130G>A (p.Asp44Asn)	MGAT1 (D44N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768056	NM_002406.4(MGAT1):c.117A>G (p.Ser39=)	MGAT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 792024	NM_002406.4(MGAT1):c.93C>T (p.Arg31=)	MGAT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773325	NM_002406.4(MGAT1):c.90G>A (p.Thr30=)	MGAT1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2310631	NM_002406.4(MGAT1):c.82T>C (p.Phe28Leu)	MGAT1 (F28L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513660	NM_002406.4(MGAT1):c.29T>C (p.Val10Ala)	MGAT1 (V10A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684436	GRCh37/hg19 5q35.3(chr5:178581633-180719789)x3	ADAMTS2, BTNL3 +34 more	Copy number gain	not provided	GUncertain significance
Select item 1808159	GRCh37/hg19 5q35.3(chr5:179922498-180608605)x3	BTNL3, BTNL8 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1807832	GRCh37/hg19 5q35.3(chr5:180148276-180719789)x1	BTNL3, BTNL8 +15 more	Copy number loss	not provided	GUncertain significance
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 981214	GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3	ADAMTS2, ARL10 +115 more	Copy number gain	5q35 microduplication syndrome	GPathogenic
Select item 979542	GRCh37/hg19 5q35.3(chr5:180064955-180719789)x3	TRIM7, RACK1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 814764	GRCh37/hg19 5q35.3(chr5:179479838-180695063)x3	OR2V2, TRIM7 +22 more	Copy number gain	not provided	GUncertain significance
Select item 814763	GRCh37/hg19 5q35.3(chr5:178487249-180622216)x4	ADAMTS2, BTNL3 +30 more	Copy number gain	not provided	GUncertain significance
Select item 686512	GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3	ADAMTS2, B4GALT7 +59 more	Copy number gain	not provided	GPathogenic
Select item 626286	Single allele	ADAMTS2, B4GALT7 +80 more	Duplication	not provided	GLikely pathogenic
Select item 625703	GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)	ADAMTS2, ARL10 +90 more	Copy number gain	not provided	GPathogenic
Select item 625655	GRCh37/hg19 5q35.3(chr5:177776148-180687012)	ADAMTS2, BTNL3 +43 more	Copy number loss	not provided	GLikely pathogenic
Select item 563131	GRCh37/hg19 5q35.3(chr5:177114088-180719789)x1	ADAMTS2, BTNL3 +50 more	Copy number loss	not provided	GUncertain significance
Select item 443453	GRCh37/hg19 5q35.3(chr5:177535168-180719789)x3	ADAMTS2, BTNL3 +48 more	Copy number gain	See cases	GUncertain significance
Select item 443005	GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1	ADAMTS2, ARL10 +86 more	Copy number loss	See cases	GPathogenic
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 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 441675	GRCh37/hg19 5q35.3(chr5:180035579-180238080)x1	FLT4, MGAT1 +1 more	Copy number loss	See cases	GUncertain significance
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 187821	GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1	BTNL9, C5orf60 +92 more	Copy number loss	See cases	GPathogenic

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Items: 70