"Ambry Genetics"[submitter] AND "MSH5"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2607107	NM_172166.4(MSH5):c.59C>A (p.Ala20Asp)	MSH5, MSH5-SAPCD1 (A20D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2477824	NM_172166.4(MSH5):c.152A>G (p.His51Arg)	MSH5, MSH5-SAPCD1 (H51R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2550938	NM_172166.4(MSH5):c.197A>G (p.Tyr66Cys)	MSH5, MSH5-SAPCD1 (Y66C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2257590	NM_172166.4(MSH5):c.246C>G (p.His82Gln)	MSH5, MSH5-SAPCD1 (H82Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3211480	NM_172166.4(MSH5):c.364C>G (p.His122Asp)	MSH5, MSH5-SAPCD1 (H122D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3211481	NM_172166.4(MSH5):c.461T>C (p.Phe154Ser)	MSH5, MSH5-SAPCD1 (F154S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3211482	NM_172166.4(MSH5):c.475A>G (p.Met159Val)	MSH5, MSH5-SAPCD1 (M159V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2271444	NM_172166.4(MSH5):c.526T>C (p.Cys176Arg)	MSH5, MSH5-SAPCD1 (C176R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2328959	NM_172166.4(MSH5):c.574C>G (p.Arg192Gly)	MSH5, MSH5-SAPCD1 (R192G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2515242	NM_172166.4(MSH5):c.586G>A (p.Gly196Arg)	MSH5, MSH5-SAPCD1 (G213R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3211490	NM_172166.4(MSH5):c.662A>G (p.Asn221Ser)	MSH5, MSH5-SAPCD1 (N221S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2345299	NM_172166.4(MSH5):c.876G>T (p.Gln292His)	MSH5, MSH5-SAPCD1 (Q309H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2488856	NM_172166.4(MSH5):c.949C>T (p.Pro317Ser)	MSH5, MSH5-SAPCD1 (P334S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3211426	NM_172166.4(MSH5):c.981C>A (p.His327Gln)	MSH5, MSH5-SAPCD1 (H327Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2621463	NM_172166.4(MSH5):c.994G>A (p.Asp332Asn)	MSH5, MSH5-SAPCD1 (D349N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3211430	NM_172166.4(MSH5):c.1082G>A (p.Arg361Gln)	MSH5, MSH5-SAPCD1 (R361Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2295162	NM_172166.4(MSH5):c.1120A>G (p.Ile374Val)	MSH5, MSH5-SAPCD1 (I391V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2272861	NM_172166.4(MSH5):c.1156G>T (p.Gly386Cys)	MSH5, MSH5-SAPCD1 (G403C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2283437	NM_172166.4(MSH5):c.1159A>G (p.Ser387Gly)	MSH5, MSH5-SAPCD1 (S404G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2511268	NM_172166.4(MSH5):c.1165G>C (p.Ala389Pro)	MSH5, MSH5-SAPCD1 (A389P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3296328	NM_172166.4(MSH5):c.1196T>C (p.Ile399Thr)	MSH5, MSH5-SAPCD1 (I416T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3211447	NM_172166.4(MSH5):c.1223G>A (p.Arg408Gln)	MSH5, MSH5-SAPCD1 (R425Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2396521	NM_172166.4(MSH5):c.1234G>C (p.Gly412Arg)	MSH5, MSH5-SAPCD1 (G412R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2522735	NM_172166.4(MSH5):c.1351C>T (p.Arg451Cys)	MSH5, MSH5-SAPCD1 (R468C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2277821	NM_172166.4(MSH5):c.1405A>G (p.Met469Val)	MSH5, MSH5-SAPCD1 (M469V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3296329	NM_172166.4(MSH5):c.1429C>G (p.His477Asp)	MSH5, MSH5-SAPCD1 (H477D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2282180	NM_172166.4(MSH5):c.1497C>G (p.Asp499Glu)	MSH5, MSH5-SAPCD1 (D499E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2347937	NM_172166.4(MSH5):c.1544G>A (p.Arg515Gln)	MSH5, MSH5-SAPCD1 (R515Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2467657	NM_172166.4(MSH5):c.1643G>A (p.Arg548His)	MSH5, MSH5-SAPCD1 (R548H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2312067	NM_172166.4(MSH5):c.2005C>T (p.Leu669Phe)	MSH5, MSH5-SAPCD1 (L669F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2590503	NM_172166.4(MSH5):c.2072G>T (p.Arg691Leu)	MSH5, MSH5-SAPCD1 (R692L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2469700	NM_172166.4(MSH5):c.2072G>A (p.Arg691Gln)	MSH5, MSH5-SAPCD1 (R691Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2494581	NM_172166.4(MSH5):c.2104C>T (p.His702Tyr)	MSH5, MSH5-SAPCD1 (H702Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2379844	NM_172166.4(MSH5):c.2335C>G (p.Arg779Gly)	MSH5, MSH5-SAPCD1 (R780G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3211474	NM_172166.4(MSH5):c.2336G>A (p.Arg779His)	MSH5, MSH5-SAPCD1 (R780H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3211475	NM_172166.4(MSH5):c.2411A>G (p.Asp804Gly)	MSH5, MSH5-SAPCD1 (D792G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3211478	NM_172166.4(MSH5):c.2458G>A (p.Val820Ile)	MSH5, MSH5-SAPCD1 (V808I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2411677	NM_172166.4(MSH5):c.2464A>G (p.Met822Val)	MSH5, MSH5-SAPCD1 (M810V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 38