TMEM160[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 60103	GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1	AP2S1, ARHGAP35 +123 more	Copy number loss	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
Select item 2464455	NM_017854.2(TMEM160):c.469A>G (p.Met157Val)	TMEM160 (M157V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178903	NM_017854.2(TMEM160):c.461G>A (p.Gly154Asp)	TMEM160 (G154D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569966	NM_017854.2(TMEM160):c.452G>A (p.Cys151Tyr)	TMEM160 (C151Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606639	NM_017854.2(TMEM160):c.431C>T (p.Ala144Val)	TMEM160 (A144V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305371	NM_017854.2(TMEM160):c.371T>C (p.Leu124Pro)	TMEM160 (L124P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288544	NM_017854.2(TMEM160):c.326G>A (p.Cys109Tyr)	TMEM160 (C109Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178901	NM_017854.2(TMEM160):c.145C>G (p.Pro49Ala)	LOC130064789, TMEM160 (P49A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302579	NM_017854.2(TMEM160):c.112G>A (p.Ala38Thr)	LOC130064789, TMEM160 (A38T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547445	NM_017854.2(TMEM160):c.70C>T (p.Pro24Ser)	LOC130064789, TMEM160 (P24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220880	NM_017854.2(TMEM160):c.49C>T (p.Arg17Cys)	LOC130064789, TMEM160 (R17C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326832	NM_017854.2(TMEM160):c.37C>G (p.Leu13Val)	LOC130064789, TMEM160 (L13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352557	NM_017854.2(TMEM160):c.35G>T (p.Arg12Leu)	LOC130064789, TMEM160 (R12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264813	NM_017854.2(TMEM160):c.10G>T (p.Gly4Cys)	TMEM160 (G4C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2504578	GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409)	AP2S1, ARHGAP35 +25 more	Copy number gain	Coffin-Siris syndrome 12	GLikely pathogenic
Select item 1526668	GRCh37/hg19 19q13.32(chr19:46918881-47782258)	AP2S1, ARHGAP35 +18 more	Copy number gain	not specified	GUncertain significance
Select item 816087	GRCh37/hg19 19q13.32-13.33(chr19:47331662-48234260)x3	ZNF541, EHD2 +17 more	Copy number gain	not provided	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	OPA3, PPP1R37 +74 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 625762	GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536)	AP2S1, ARHGAP35 +33 more	Copy number gain	not provided	GPathogenic
Select item 493602	GRCh37/hg19 19q13.32(chr19:47228251-47867279)x3	AP2S1, ARHGAP35 +13 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 441540	GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1	AP2S1, ARHGAP35 +46 more	Copy number loss	See cases	GLikely pathogenic
Select item 393971	GRCh37/hg19 19q13.32(chr19:47450549-47880338)x3	ARHGAP35, BBC3 +9 more	Copy number gain	See cases	GLikely pathogenic

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Items: 28