C2936783[trait identifier] AND "Human Genetics Bochum, Ruhr University - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 184896	NM_001048174.2(MUTYH):c.730C>T (p.Pro244Ser)	MUTYH (P272S +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 428559	NM_000251.3(MSH2):c.211+1G>T	MSH2	Single nucleotide variant (splice donor variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GPathogenic
Select item 91139	NM_000251.3(MSH2):c.568CTC[1] (p.Leu191del)	MSH2 (L191del +1 more)	Microsatellite (inframe_deletion)	Lynch syndrome	GPathogenic
Select item 91154	NM_000251.3(MSH2):c.643C>T (p.Gln215Ter)	MSH2 (Q215* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 91258	NM_000251.3(MSH2):c.958dup (p.Thr320fs)	MSH2 (T320fs +1 more)	Duplication (frameshift variant)	Lynch syndrome	GPathogenic
Select item 91273	NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr)	MSH2 (C333Y +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GPathogenic
Select item 489908	NM_000251.3(MSH2):c.1045C>T (p.Pro349Ser)	MSH2 (P349S +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 2583148	NM_000251.3(MSH2):c.1186del (p.Arg396fs)	MSH2 (R256fs +6 more)	Deletion (frameshift variant +2 more)	Lynch syndrome 1	GLikely pathogenic
Select item 90616	NM_000251.3(MSH2):c.1285C>T (p.Gln429Ter)	MSH2 (Q429* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 90903	NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)	MSH2 (R711* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 483843	NM_000179.3(MSH6):c.726C>A (p.Ser242Arg)	MSH6 (S242R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 89174	NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer)	MSH6	Microsatellite (nonsense)	Lynch syndrome	GPathogenic
Select item 1801691	NM_000249.4(MLH1):c.879C>G (p.Tyr293Ter)	MLH1 (Y195* +3 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome 1 +1 more	GLikely pathogenic
Select item 90014	NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)	MLH1 (R687W +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic
Select item 91317	NM_000535.7(PMS2):c.1831dup (p.Ile611fs)	PMS2 (I476fs +7 more)	Duplication (frameshift variant +1 more)	Lynch syndrome	GPathogenic
Select item 1696824	NM_000051.4(ATM):c.201T>G (p.Tyr67Ter)	ATM (Y67*)	Single nucleotide variant (nonsense)	Lynch syndrome 1	GLikely pathogenic
Select item 416460	NM_001040108.2(MLH3):c.2425A>G (p.Met809Val)	MLH3 (M809V)	Single nucleotide variant (missense variant)	Lynch syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1696821	NM_024675.4(PALB2):c.3314_3315del (p.Val1105fs)	PALB2 (V1105fs)	Microsatellite (frameshift variant)	Lynch syndrome 1	GLikely pathogenic