"GeneDx"[submitter] AND "PMS1"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 1253116	NC_000002.12:g.189783950A>G	ORMDL1, PMS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1248274	NC_000002.12:g.189783978G>C	ORMDL1, PMS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1292649	NC_000002.12:g.189783989C>A	ORMDL1, PMS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 369322	NC_000002.12:g.189784079G>T	ORMDL1, PMS1	Single nucleotide variant (intron variant)	Lynch syndrome +1 more	GBenign/Likely benign
Select item 1292217	NC_000002.12:g.189784312C>T	ORMDL1, PMS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1221371	NM_000534.5(PMS1):c.-100G>T	PMS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1292222	NM_000534.5(PMS1):c.-24G>C	PMS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1275917	NM_000534.5(PMS1):c.-21+74G>A	PMS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1292404	NM_000534.5(PMS1):c.-21+76T>C	PMS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1274521	NM_000534.5(PMS1):c.315+6G>A	PMS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 333204	NM_000534.5(PMS1):c.345T>C (p.Asp115=)	PMS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1228750	NM_000534.5(PMS1):c.418+70dup	PMS1 (L164fs)	Duplication (intron variant +1 more)	not provided	GBenign
Select item 1283805	NM_000534.5(PMS1):c.419-111G>C	PMS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182485	NM_000534.5(PMS1):c.419-92A>G	PMS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259406	NM_000534.5(PMS1):c.582+49_582+52dup	PMS1	Duplication (intron variant)	not provided	GBenign
Select item 152531	GRCh38/hg38 2q32.2(chr2:189828954-189853926)x1	PMS1	Copy number loss	See cases	GPathogenic
Select item 1283830	NM_000534.5(PMS1):c.700-23C>A	PMS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232362	NM_000534.5(PMS1):c.822+125T>C	PMS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 488894	NM_000534.5(PMS1):c.829C>T (p.Arg277Ter)	PMS1 (R277* +3 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 1228794	NM_000534.5(PMS1):c.*10T>A	PMS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign

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Items: 22