81671[Gene ID] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 151500	GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1	C17orf47, CCDC182 +168 more	Copy number loss	See cases	GPathogenic
Select item 146320	GRCh38/hg38 17q22-23.1(chr17:59481220-59756756)x1	CLTC, DHX40 +10 more	Copy number loss	See cases	GUncertain significance
Select item 3332113	NM_030938.5(VMP1):c.52G>A (p.Glu18Lys)	VMP1 (E18K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368407	NM_030938.5(VMP1):c.165G>T (p.Gln55His)	VMP1 (Q55H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 222959	NM_030938.5(VMP1):c.331_332del (p.Leu111fs)	VMP1 (L111fs +1 more)	Deletion (frameshift variant +2 more)	Monoclonal B-Cell Lymphocytosis	GUncertain significance
Select item 2275189	NM_030938.5(VMP1):c.485A>G (p.Tyr162Cys)	VMP1 (Y65C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2456295	NM_030938.5(VMP1):c.529A>G (p.Thr177Ala)	VMP1 (T43A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2356929	NM_030938.5(VMP1):c.830C>T (p.Thr277Met)	VMP1 (T124M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328493	NM_030938.5(VMP1):c.1066G>T (p.Gly356Cys)	LOC114827848, VMP1 (G164C +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188701	NM_030938.5(VMP1):c.1094C>T (p.Ser365Phe)	VMP1 (S268F +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383200	NM_030938.5(VMP1):c.1117G>A (p.Val373Ile)	VMP1 (V317I +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523541	NM_030938.5(VMP1):c.1141C>G (p.Leu381Val)	VMP1 (L344V +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527924	NM_030938.5(VMP1):c.1147A>C (p.Ile383Leu)	VMP1 (I230L +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526582	GRCh37/hg19 17q23.1(chr17:57792473-57913522)	VMP1	Copy number loss	not specified	GUncertain significance
Select item 1526581	GRCh37/hg19 17q23.1(chr17:57665341-57873701)	CLTC, DHX40 +2 more	Copy number loss	not specified	GUncertain significance
Select item 1412084	NC_000017.10:g.(?_54671585)_(59938900_?)dup	AKAP1, APPBP2 +54 more	Duplication	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1340823	GRCh37/hg19 17q23.1-23.2(chr17:57605300-59389547)x1	APPBP2, BCAS3 +13 more	Copy number loss	not provided	GPathogenic
Select item 815942	GRCh37/hg19 17q23.1(chr17:57616400-57986918)x1	TUBD1, VMP1 +5 more	Copy number loss	not provided	GLikely pathogenic
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 443558	GRCh37/hg19 17q22-23.2(chr17:56623275-60285107)x1	APPBP2, BCAS3 +29 more	Copy number loss	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic

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Items: 28