TMEM91[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 2401136	NM_001098821.2(TMEM91):c.11C>G (p.Pro4Arg)	TMEM91 (P4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245587	NM_001098821.2(TMEM91):c.62C>A (p.Thr21Asn)	TMEM91 (T21N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179727	NM_001098821.2(TMEM91):c.83G>C (p.Arg28Thr)	TMEM91 (R28T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327220	NM_001098821.2(TMEM91):c.88G>A (p.Glu30Lys)	TMEM91 (E30K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179725	NM_001098821.2(TMEM91):c.169G>A (p.Val57Met)	TMEM91 (V57M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393073	NM_001098821.2(TMEM91):c.169G>C (p.Val57Leu)	TMEM91 (V57L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510390	NM_001098821.2(TMEM91):c.337G>A (p.Ala113Thr)	TMEM91 (A113T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179726	NM_001098821.2(TMEM91):c.381G>C (p.Lys127Asn)	TMEM91 (K127N)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3327221	NM_001098821.2(TMEM91):c.428T>G (p.Leu143Arg)	TMEM91 (L143R)	Single nucleotide variant (3 prime UTR variant +2 more)	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 816083	GRCh37/hg19 19q13.2(chr19:41889319-42338832)x3	B3GNT8, BCKDHA +10 more	Copy number gain	not provided	GUncertain significance
Select item 816082	GRCh37/hg19 19q13.2(chr19:41304025-41928997)x3	B9D2, CYP2S1 +13 more	Copy number gain	not provided	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 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 395643	GRCh37/hg19 19q13.2(chr19:41882243-41928551)x1	BCKDHA, EXOSC5 +1 more	Copy number loss	See cases	GUncertain significance