VSTM5[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	AAMDC, ACER3 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	LINC02553, LINC02700 +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 2247077	NM_001144871.2(VSTM5):c.517T>C (p.Cys173Arg)	VSTM5 (C173R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189179	NM_001144871.2(VSTM5):c.503G>C (p.Trp168Ser)	VSTM5 (W168S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473270	NM_001144871.2(VSTM5):c.495C>A (p.Ser165Arg)	VSTM5 (S165R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189178	NM_001144871.2(VSTM5):c.374G>C (p.Arg125Pro)	VSTM5 (R125P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189177	NM_001144871.2(VSTM5):c.374G>A (p.Arg125His)	VSTM5 (R125H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3189176	NM_001144871.2(VSTM5):c.368C>T (p.Thr123Met)	VSTM5 (T123M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189175	NM_001144871.2(VSTM5):c.353A>G (p.Tyr118Cys)	VSTM5 (Y118C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189174	NM_001144871.2(VSTM5):c.307G>A (p.Gly103Ser)	VSTM5 (G103S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592911	NM_001144871.2(VSTM5):c.304A>G (p.Asn102Asp)	VSTM5 (N102D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401525	NM_001144871.2(VSTM5):c.290T>C (p.Val97Ala)	VSTM5 (V97A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411478	NM_001144871.2(VSTM5):c.271C>A (p.Gln91Lys)	VSTM5 (Q91K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189173	NM_001144871.2(VSTM5):c.224C>T (p.Thr75Met)	VSTM5 (T75M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551152	NM_001144871.2(VSTM5):c.205T>A (p.Tyr69Asn)	VSTM5 (Y69N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338624	NM_001144871.2(VSTM5):c.35G>A (p.Arg12Gln)	VSTM5 (R12Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527661	GRCh37/hg19 11q14.3-21(chr11:90906452-94437087)	ANKRD49, C11orf54 +16 more	Copy number gain	not specified	GUncertain significance
Select item 1527656	GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)	C11orf54, CCDC81 +39 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527655	GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	AMOTL1, ANKRD42 +66 more	Copy number loss	not specified	GPathogenic
Select item 1527654	GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	AMOTL1, ANKRD42 +72 more	Copy number loss	not specified	GPathogenic
Select item 1340903	GRCh37/hg19 11q21(chr11:93475922-93778658)x1	C11orf54, HEPHL1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1340172	GRCh37/hg19 11q21(chr11:93468349-93587129)x1	C11orf54, MED17 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980968	GRCh37/hg19 11q14.3-21(chr11:92615227-93592229)x3	C11orf54, CEP295 +8 more	Copy number gain	not provided	GUncertain significance
Select item 815457	GRCh37/hg19 11q21(chr11:93297444-94041273)x3	PANX1, CEP295 +6 more	Copy number gain	not provided	GUncertain significance
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 more	Copy number loss	See cases	GPathogenic

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Items: 34