MBOAT1[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	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 2359779	NM_001080480.3(MBOAT1):c.1469A>G (p.Asn490Ser)	MBOAT1 (N490S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624285	NM_001080480.3(MBOAT1):c.1358A>G (p.Tyr453Cys)	MBOAT1 (Y453C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550118	NM_001080480.3(MBOAT1):c.1336G>A (p.Val446Ile)	MBOAT1 (V446I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124090	NM_001080480.3(MBOAT1):c.1295T>A (p.Leu432Gln)	MBOAT1 (L432Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404046	NM_001080480.3(MBOAT1):c.1285G>A (p.Val429Ile)	MBOAT1 (V429I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2520454	NM_001080480.3(MBOAT1):c.1279T>A (p.Trp427Arg)	MBOAT1 (W427R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293554	NM_001080480.3(MBOAT1):c.1256A>T (p.Lys419Met)	MBOAT1 (K419M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124089	NM_001080480.3(MBOAT1):c.1197A>C (p.Leu399Phe)	MBOAT1 (L399F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293551	NM_001080480.3(MBOAT1):c.1157G>T (p.Gly386Val)	MBOAT1 (G386V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124088	NM_001080480.3(MBOAT1):c.1093G>C (p.Val365Leu)	MBOAT1 (V365L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385009	NM_001080480.3(MBOAT1):c.1093G>T (p.Val365Phe)	MBOAT1 (V365F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124086	NM_001080480.3(MBOAT1):c.1091G>A (p.Arg364Gln)	MBOAT1 (R364Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380650	NM_001080480.3(MBOAT1):c.1091G>T (p.Arg364Leu)	MBOAT1 (R364L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124085	NM_001080480.3(MBOAT1):c.1090C>T (p.Arg364Trp)	MBOAT1 (R364W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390688	NM_001080480.3(MBOAT1):c.1063A>G (p.Thr355Ala)	MBOAT1 (T355A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3124084	NM_001080480.3(MBOAT1):c.1030A>G (p.Met344Val)	MBOAT1 (M344V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353371	NM_001080480.3(MBOAT1):c.1022G>A (p.Ser341Asn)	MBOAT1 (S341N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124083	NM_001080480.3(MBOAT1):c.1021A>G (p.Ser341Gly)	MBOAT1 (S341G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410452	NM_001080480.3(MBOAT1):c.1007T>C (p.Ile336Thr)	MBOAT1 (I336T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124096	NM_001080480.3(MBOAT1):c.989A>G (p.Asn330Ser)	MBOAT1 (N330S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124095	NM_001080480.3(MBOAT1):c.986C>T (p.Ser329Leu)	MBOAT1 (S329L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124094	NM_001080480.3(MBOAT1):c.848G>A (p.Cys283Tyr)	MBOAT1 (C283Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291438	NM_001080480.3(MBOAT1):c.848G>C (p.Cys283Ser)	MBOAT1 (C283S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263027	NM_001080480.3(MBOAT1):c.817G>A (p.Val273Ile)	MBOAT1 (V273I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477693	NM_001080480.3(MBOAT1):c.731A>G (p.Lys244Arg)	MBOAT1 (K244R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293549	NM_001080480.3(MBOAT1):c.703C>T (p.Pro235Ser)	MBOAT1 (P235S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251134	NM_001080480.3(MBOAT1):c.603C>A (p.Asn201Lys)	MBOAT1 (N201K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293552	NM_001080480.3(MBOAT1):c.577A>G (p.Met193Val)	MBOAT1 (M193V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293553	NM_001080480.3(MBOAT1):c.470A>T (p.His157Leu)	MBOAT1 (H157L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124093	NM_001080480.3(MBOAT1):c.378A>G (p.Ile126Met)	MBOAT1 (I126M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344704	NM_001080480.3(MBOAT1):c.298A>T (p.Thr100Ser)	MBOAT1 (T100S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213864	NM_001080480.3(MBOAT1):c.289A>G (p.Ile97Val)	MBOAT1 (I97V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124092	NM_001080480.3(MBOAT1):c.256C>T (p.His86Tyr)	MBOAT1 (H86Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454515	NM_001080480.3(MBOAT1):c.221A>G (p.Tyr74Cys)	MBOAT1 (Y74C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622752	NM_001080480.3(MBOAT1):c.107T>C (p.Phe36Ser)	MBOAT1 (F36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1809386	GRCh37/hg19 6p24.1-22.3(chr6:12005630-22849647)x1	ATXN1, CAP2 +32 more	Copy number loss	not provided	GPathogenic
Select item 814798	GRCh37/hg19 6p22.3(chr6:20189285-20272821)x1	MBOAT1	Copy number loss	not provided	GUncertain significance
Select item 688193	GRCh37/hg19 6p23-22.3(chr6:13910125-22000204)x1	ATXN1, CAP2 +21 more	Copy number loss	not provided	GPathogenic
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442457	GRCh37/hg19 6p23-22.3(chr6:13693852-24225515)x1	ATXN1, CAP2 +27 more	Copy number loss	See cases	GPathogenic
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic

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Items: 48