MFAP3[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	See cases	GPathogenic
Select item 3125648	NM_005927.5(MFAP3):c.14G>A (p.Cys5Tyr)	MFAP3 (C5Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294494	NM_005927.5(MFAP3):c.82G>A (p.Asp28Asn)	MFAP3 (D28N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2355741	NM_005927.5(MFAP3):c.167C>T (p.Ser56Leu)	MFAP3 (S56L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125649	NM_005927.5(MFAP3):c.172G>T (p.Asp58Tyr)	MFAP3 (D58Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317997	NM_005927.5(MFAP3):c.178G>A (p.Val60Ile)	MFAP3 (V60I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2282928	NM_005927.5(MFAP3):c.181A>G (p.Ile61Val)	MFAP3 (I61V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393239	NM_005927.5(MFAP3):c.205G>A (p.Val69Ile)	MFAP3 (V69I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125650	NM_005927.5(MFAP3):c.365A>G (p.Tyr122Cys)	MFAP3 (Y122C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2234245	NM_005927.5(MFAP3):c.391C>T (p.Arg131Cys)	MFAP3 (R131C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3125651	NM_005927.5(MFAP3):c.392G>A (p.Arg131His)	MFAP3 (R131H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2377661	NM_005927.5(MFAP3):c.422T>C (p.Ile141Thr)	MFAP3 (I141T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2378271	NM_005927.5(MFAP3):c.505C>T (p.Arg169Trp)	MFAP3 (R23W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241633	NM_005927.5(MFAP3):c.516G>C (p.Met172Ile)	MFAP3 (M26I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239171	NM_005927.5(MFAP3):c.523A>T (p.Ser175Cys)	MFAP3 (S29C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560512	NM_005927.5(MFAP3):c.532C>T (p.Arg178Cys)	MFAP3 (R178C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125652	NM_005927.5(MFAP3):c.566G>A (p.Arg189Lys)	MFAP3 (R189K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619093	NM_005927.5(MFAP3):c.658G>T (p.Val220Phe)	MFAP3 (V74F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241634	NM_005927.5(MFAP3):c.836C>T (p.Ala279Val)	MFAP3 (A133V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263686	NM_005927.5(MFAP3):c.845G>A (p.Gly282Asp)	MFAP3 (G136D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125653	NM_005927.5(MFAP3):c.874C>T (p.Arg292Trp)	MFAP3 (R146W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125654	NM_005927.5(MFAP3):c.890G>A (p.Gly297Glu)	MFAP3 (G297E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125647	NM_005927.5(MFAP3):c.1027A>G (p.Ile343Val)	MFAP3 (I343V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516973	NM_005927.5(MFAP3):c.1060G>A (p.Asp354Asn)	MFAP3 (D354N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1807966	GRCh37/hg19 5q33.2(chr5:153030768-153594725)x1	FAM114A2, GALNT10 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, ARB2A +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	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 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 37