MGAT4A[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 148950	GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3	ACTR1B, ADRA2B +207 more	Copy number gain	See cases	GUncertain significance
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 150339	GRCh38/hg38 2q11.2(chr2:98411773-101636907)x1	AFF3, C2orf15 +114 more	Copy number loss	See cases	GLikely pathogenic
Select item 3294608	NM_012214.3(MGAT4A):c.1556C>A (p.Ser519Tyr)	MGAT4A (S391Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549821	NM_012214.3(MGAT4A):c.1546A>T (p.Ile516Phe)	MGAT4A (I388F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402510	NM_012214.3(MGAT4A):c.1442G>A (p.Arg481Gln)	MGAT4A (R481Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538289	NM_012214.3(MGAT4A):c.1376C>G (p.Thr459Arg)	MGAT4A (T331R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284781	NM_012214.3(MGAT4A):c.1330T>C (p.Phe444Leu)	MGAT4A (F316L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125915	NM_012214.3(MGAT4A):c.1285A>G (p.Ile429Val)	MGAT4A (I301V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610009	NM_012214.3(MGAT4A):c.1285A>T (p.Ile429Phe)	MGAT4A (I301F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125914	NM_012214.3(MGAT4A):c.1217A>C (p.His406Pro)	MGAT4A (H278P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718738	NM_012214.3(MGAT4A):c.1182G>A (p.Ala394=)	MGAT4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2236949	NM_012214.3(MGAT4A):c.1177C>T (p.Pro393Ser)	MGAT4A (P265S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542876	NM_012214.3(MGAT4A):c.1141A>G (p.Met381Val)	MGAT4A (M253V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294609	NM_012214.3(MGAT4A):c.1057C>T (p.Arg353Cys)	MGAT4A (R225C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369725	NM_012214.3(MGAT4A):c.979C>G (p.His327Asp)	MGAT4A (H199D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409709	NM_012214.3(MGAT4A):c.905C>T (p.Ala302Val)	MGAT4A (A174V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710312	NM_012214.3(MGAT4A):c.706A>G (p.Thr236Ala)	MGAT4A (T108A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2334372	NM_012214.3(MGAT4A):c.572A>G (p.Asn191Ser)	MGAT4A (N63S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381033	NM_012214.3(MGAT4A):c.563T>G (p.Val188Gly)	MGAT4A (V188G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374647	NM_012214.3(MGAT4A):c.484A>C (p.Asn162His)	MGAT4A (N162H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294610	NM_012214.3(MGAT4A):c.458T>C (p.Ile153Thr)	MGAT4A (I153T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271208	NM_012214.3(MGAT4A):c.386G>A (p.Gly129Asp)	MGAT4A (G129D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125918	NM_012214.3(MGAT4A):c.349A>G (p.Lys117Glu)	MGAT4A (K117E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472353	NM_012214.3(MGAT4A):c.302A>T (p.Lys101Ile)	MGAT4A (K101I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331393	NM_012214.3(MGAT4A):c.271C>G (p.Leu91Val)	MGAT4A (L91V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125917	NM_012214.3(MGAT4A):c.211C>T (p.Arg71Cys)	MGAT4A (R71C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328213	NM_012214.3(MGAT4A):c.204G>C (p.Gln68His)	MGAT4A (Q68H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345428	NM_012214.3(MGAT4A):c.196G>A (p.Val66Met)	MGAT4A (V66M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524271	NM_012214.3(MGAT4A):c.146G>A (p.Arg49Gln)	MGAT4A (R49Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125916	NM_012214.3(MGAT4A):c.128C>T (p.Ala43Val)	MGAT4A (A43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385779	NM_012214.3(MGAT4A):c.76A>G (p.Thr26Ala)	MGAT4A (T26A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339635	NM_012214.3(MGAT4A):c.64T>A (p.Ser22Thr)	MGAT4A (S22T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808615	GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3	ACTR1B, ADRA2B +54 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443415	GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	ACTR1B, ADRA2B +86 more	Copy number gain	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic
Select item 394206	GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394)	AFF3, ADRA2B +53 more	Copy number gain	See cases	GPathogenic

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Items: 47