"Ambry Genetics"[submitter] AND "GZMM"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3103427	NM_005317.4(GZMM):c.8C>T (p.Ala3Val)	GZMM (A3V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2509718	NM_005317.4(GZMM):c.103C>G (p.His35Asp)	GZMM (H35D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3103418	NM_005317.4(GZMM):c.113C>T (p.Pro38Leu)	GZMM (P38L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3103419	NM_005317.4(GZMM):c.161T>G (p.Val54Gly)	GZMM (V15G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283240	NM_005317.4(GZMM):c.190G>A (p.Ala64Thr)	GZMM (A64T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295302	NM_005317.4(GZMM):c.211C>T (p.Arg71Trp)	GZMM (R71W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552352	NM_005317.4(GZMM):c.253G>A (p.Asp85Asn)	GZMM (D46N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283241	NM_005317.4(GZMM):c.257G>A (p.Ser86Asn)	GZMM (S47N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372516	NM_005317.4(GZMM):c.262G>A (p.Gly88Ser)	GZMM (G49S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103421	NM_005317.4(GZMM):c.294G>T (p.Gln98His)	GZMM (Q98H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474910	NM_005317.4(GZMM):c.301C>T (p.Arg101Cys)	GZMM (R101C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541624	NM_005317.4(GZMM):c.333C>A (p.Asp111Glu)	GZMM (D111E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365129	NM_005317.4(GZMM):c.374G>A (p.Arg125Gln)	GZMM (R86Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367379	NM_005317.4(GZMM):c.431G>A (p.Arg144Gln)	GZMM (R105Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256871	NM_005317.4(GZMM):c.439A>G (p.Met147Val)	GZMM (M108V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2460895	NM_005317.4(GZMM):c.449G>C (p.Trp150Ser)	GZMM (W150S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103422	NM_005317.4(GZMM):c.518C>A (p.Thr173Asn)	GZMM (T134N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103423	NM_005317.4(GZMM):c.521G>A (p.Arg174His)	GZMM (R135H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538039	NM_005317.4(GZMM):c.607T>G (p.Cys203Gly)	GZMM (C164G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330726	NM_005317.4(GZMM):c.608G>A (p.Cys203Tyr)	GZMM (C164Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103424	NM_005317.4(GZMM):c.628C>G (p.Pro210Ala)	GZMM (P171A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103425	NM_005317.4(GZMM):c.646G>A (p.Gly216Ser)	GZMM (G216S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308093	NM_005317.4(GZMM):c.668T>C (p.Leu223Pro)	GZMM (L184P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103426	NM_005317.4(GZMM):c.712G>A (p.Val238Met)	GZMM (V238M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271808	NM_005317.4(GZMM):c.724G>A (p.Val242Met)	GZMM (V203M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 25