Related gene-specific medical variations for Gene (Select 55720) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322678	NM_021947.3(SRR):c.776T>A (p.Ile259Asn)	SRR, TSR1 (I259N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3183930	NM_018128.5(TSR1):c.2380A>G (p.Ile794Val)	SRR, TSR1 (I794V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183929	NM_018128.5(TSR1):c.2362C>T (p.Pro788Ser)	SRR, TSR1 (P788S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183928	NM_018128.5(TSR1):c.2357C>G (p.Pro786Arg)	SRR, TSR1 (P786R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183927	NM_018128.5(TSR1):c.2198C>T (p.Thr733Met)	SRR, TSR1 (T733M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183926	NM_018128.5(TSR1):c.2036T>C (p.Ile679Thr)	SRR, TSR1 (I679T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170079	NM_021947.3(SRR):c.620A>G (p.Tyr207Cys)	SRR, TSR1 (Y207C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3042039	NM_018128.5(TSR1):c.2333C>T (p.Thr778Ile)	SRR, TSR1 (T778I)	Single nucleotide variant (missense variant +1 more)	TSR1-related disorder	GLikely benign
Select item 2616085	NM_021947.3(SRR):c.888A>C (p.Gln296His)	SRR, TSR1 (Q296H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2555377	NM_018128.5(TSR1):c.2309A>G (p.Tyr770Cys)	SRR, TSR1 (Y770C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549291	NM_018128.5(TSR1):c.2143T>G (p.Tyr715Asp)	SRR, TSR1 (Y715D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476246	NM_021947.3(SRR):c.670G>A (p.Gly224Arg)	SRR, TSR1 (G224R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2462569	NM_021947.3(SRR):c.1010C>T (p.Ser337Phe)	SRR, TSR1 (S337F +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2385180	NM_018128.5(TSR1):c.2274G>T (p.Lys758Asn)	SRR, TSR1 (K758N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370265	NM_021947.3(SRR):c.773A>G (p.Asp258Gly)	TSR1, SRR (D109G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2360450	NM_021947.3(SRR):c.901G>A (p.Val301Ile)	SRR, TSR1 (V152I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2335088	NM_021947.3(SRR):c.886C>G (p.Gln296Glu)	SRR, TSR1 (Q296E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2313511	NM_018128.5(TSR1):c.2276T>G (p.Leu759Arg)	SRR, TSR1 (L759R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272447	NM_021947.3(SRR):c.734G>A (p.Gly245Asp)	SRR, TSR1 (G96D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2236015	NM_018128.5(TSR1):c.2117T>C (p.Ile706Thr)	SRR, TSR1 (I706T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221146	NM_018128.5(TSR1):c.2230C>A (p.Pro744Thr)	SRR, TSR1 (P744T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 21