MGAT5[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 2263591	NM_002410.5(MGAT5):c.7C>T (p.Leu3Phe)	MGAT5 (L3F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125945	NM_002410.5(MGAT5):c.94T>C (p.Phe32Leu)	MGAT5 (F32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371660	NM_002410.5(MGAT5):c.140G>A (p.Arg47His)	MGAT5 (R47H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125940	NM_002410.5(MGAT5):c.356C>T (p.Ser119Phe)	MGAT5 (S119F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337638	NM_002410.5(MGAT5):c.361A>G (p.Thr121Ala)	MGAT5 (T121A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125941	NM_002410.5(MGAT5):c.367G>A (p.Val123Ile)	MGAT5 (V123I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243486	NM_002410.5(MGAT5):c.442C>T (p.Pro148Ser)	MGAT5 (P148S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404418	NM_002410.5(MGAT5):c.649G>A (p.Glu217Lys)	MGAT5 (E217K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125942	NM_002410.5(MGAT5):c.655C>T (p.Arg219Cys)	MGAT5 (R219C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406680	NM_002410.5(MGAT5):c.671T>G (p.Ile224Ser)	MGAT5 (I224S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590337	NM_002410.5(MGAT5):c.727C>T (p.Arg243Trp)	MGAT5 (R243W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125943	NM_002410.5(MGAT5):c.728G>A (p.Arg243Gln)	MGAT5 (R243Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312991	NM_002410.5(MGAT5):c.749T>C (p.Ile250Thr)	MGAT5 (I250T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546829	NM_002410.5(MGAT5):c.760A>C (p.Lys254Gln)	MGAT5 (K254Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508726	NM_002410.5(MGAT5):c.850A>C (p.Lys284Gln)	MGAT5 (K284Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289926	NM_002410.5(MGAT5):c.964G>A (p.Ala322Thr)	MGAT5 (A322T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354801	NM_002410.5(MGAT5):c.1102G>C (p.Val368Leu)	MGAT5 (V368L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736951	NM_002410.5(MGAT5):c.1470C>T (p.Tyr490=)	MGAT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234476	NM_002410.5(MGAT5):c.1698C>T (p.Tyr566=)	MGAT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2403544	NM_002410.5(MGAT5):c.2182G>C (p.Asp728His)	MGAT5 (D728H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062608	GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3	ACMSD, ACVR2A +26 more	Copy number gain	not specified	GLikely pathogenic
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 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339988	GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1	ACMSD, AMER3 +64 more	Copy number loss	not provided	GPathogenic
Select item 814307	GRCh37/hg19 2q21.2-21.3(chr2:134965463-135340220)x3	MGAT5, TMEM163	Copy number gain	not provided	GUncertain significance
Select item 814306	GRCh37/hg19 2q21.2-21.3(chr2:134061056-135209603)x1	MGAT5, NCKAP5	Copy number loss	not provided	GUncertain significance
Select item 686222	GRCh37/hg19 2q21.2-22.1(chr2:133457177-138188195)x1	ACMSD, CCNT2 +14 more	Copy number loss	not provided	GPathogenic
Select item 686084	GRCh37/hg19 2q21.2-21.3(chr2:134363657-135605291)x3	ACMSD, MGAT5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
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 441676	GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1	ACMSD, AMER3 +74 more	Copy number loss	See cases	GPathogenic
Select item 394902	GRCh37/hg19 2q21.3(chr2:135159120-135275483)x3	MGAT5, TMEM163	Copy number gain	See cases	GUncertain significance

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Items: 37