ClinVar for Gene (Select 284339) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326807	NM_173633.3(TMEM145):c.1333G>C (p.Val445Leu)	TMEM145 (V459L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326806	NM_173633.3(TMEM145):c.824C>T (p.Ala275Val)	TMEM145 (A275V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326805	NM_173633.3(TMEM145):c.1463G>C (p.Gly488Ala)	TMEM145 (G488A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3178845	NM_173633.3(TMEM145):c.832G>A (p.Val278Met)	TMEM145 (V278M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178844	NM_173633.3(TMEM145):c.74C>G (p.Pro25Arg)	LOC130064575, TMEM145 (P25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178843	NM_173633.3(TMEM145):c.555C>G (p.Phe185Leu)	TMEM145 (F185L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178841	NM_173633.3(TMEM145):c.493G>A (p.Ala165Thr)	TMEM145 (A165T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178840	NM_173633.3(TMEM145):c.41C>T (p.Pro14Leu)	LOC130064575, TMEM145 (P14L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178839	NM_173633.3(TMEM145):c.16G>T (p.Ala6Ser)	LOC130064575, TMEM145 (A6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178838	NM_173633.3(TMEM145):c.1325A>G (p.Tyr442Cys)	TMEM145 (Y442C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178837	NM_173633.3(TMEM145):c.128T>A (p.Val43Glu)	TMEM145 (V43E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178836	NM_173633.3(TMEM145):c.1139A>C (p.Lys380Thr)	TMEM145 (K380T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555417	NM_173633.3(TMEM145):c.971T>A (p.Val324Glu)	TMEM145 (V324E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555206	NM_173633.3(TMEM145):c.100G>A (p.Gly34Ser)	LOC130064575, TMEM145 (G34S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552674	NM_173633.3(TMEM145):c.1258G>A (p.Ala420Thr)	TMEM145 (A420T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539992	NM_173633.3(TMEM145):c.4G>A (p.Glu2Lys)	LOC130064575, TMEM145 (E2K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535635	NM_173633.3(TMEM145):c.1321G>A (p.Val441Ile)	TMEM145 (V455I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534676	NM_173633.3(TMEM145):c.1396A>T (p.Thr466Ser)	TMEM145 (T466S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2533873	NM_173633.3(TMEM145):c.177C>G (p.Phe59Leu)	TMEM145 (F59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518457	NM_173633.3(TMEM145):c.535C>T (p.Leu179Phe)	TMEM145 (L179F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	TWIST1-related craniosynostosis +3 more	GUncertain significance
Select item 2408595	NM_173633.3(TMEM145):c.1177G>A (p.Ala393Thr)	TMEM145 (A407T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396014	NM_173633.3(TMEM145):c.1387C>A (p.Pro463Thr)	TMEM145 (P477T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358957	NM_173633.3(TMEM145):c.1387C>G (p.Pro463Ala)	TMEM145 (P463A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356306	NM_173633.3(TMEM145):c.1114G>C (p.Gly372Arg)	TMEM145 (G372R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339519	NM_173633.3(TMEM145):c.482G>A (p.Arg161Gln)	TMEM145 (R161Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327323	NM_173633.3(TMEM145):c.116A>T (p.Lys39Met)	LOC130064575, TMEM145 (K39M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310766	NM_173633.3(TMEM145):c.1379C>T (p.Ser460Phe)	TMEM145 (S460F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301870	NM_173633.3(TMEM145):c.511C>G (p.Leu171Val)	TMEM145 (L185V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292834	NM_173633.3(TMEM145):c.1115G>A (p.Gly372Asp)	TMEM145 (G372D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282350	NM_173633.3(TMEM145):c.1064A>G (p.Tyr355Cys)	TMEM145 (Y369C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247728	NM_173633.3(TMEM145):c.1456C>G (p.Pro486Ala)	TMEM145 (P486A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2241950	NM_173633.3(TMEM145):c.593G>A (p.Arg198His)	TMEM145 (R212H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216964	NM_173633.3(TMEM145):c.865C>T (p.Leu289Phe)	TMEM145 (L303F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214328	NM_173633.3(TMEM145):c.896C>T (p.Ala299Val)	TMEM145 (A299V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213701	NM_173633.3(TMEM145):c.212A>G (p.Asn71Ser)	TMEM145 (N71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
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 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60102	GRCh38/hg38 19q13.2-13.31(chr19:41930894-43141456)x1	ATP1A3, CEACAM1 +95 more	Copy number loss	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 43