"Ambry Genetics"[submitter] AND "PMS1"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2620169	NM_000534.5(PMS1):c.507A>G (p.Ile169Met)	PMS1 (I108M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3215867	NM_000534.5(PMS1):c.570T>G (p.Phe190Leu)	PMS1 (F129L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311958	NM_000534.5(PMS1):c.587T>C (p.Val196Ala)	PMS1 (V135A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263743	NM_000534.5(PMS1):c.661A>G (p.Asn221Asp)	PMS1 (N221D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356108	NM_000534.5(PMS1):c.868C>T (p.Arg290Cys)	PMS1 (R114C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536902	NM_000534.5(PMS1):c.1030A>G (p.Asn344Asp)	PMS1 (N305D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611961	NM_000534.5(PMS1):c.1162A>C (p.Ile388Leu)	PMS1 (I388L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273461	NM_000534.5(PMS1):c.1334C>T (p.Ser445Leu)	PMS1 (S406L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596989	NM_000534.5(PMS1):c.1352C>T (p.Thr451Met)	PMS1 (T275M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317281	NM_000534.5(PMS1):c.1357T>A (p.Tyr453Asn)	PMS1 (Y414N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325248	NM_000534.5(PMS1):c.1466A>T (p.Asn489Ile)	PMS1 (N489I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215861	NM_000534.5(PMS1):c.1678G>C (p.Val560Leu)	PMS1 (V521L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2548049	NM_000534.5(PMS1):c.1798G>A (p.Asp600Asn)	PMS1 (D424N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215862	NM_000534.5(PMS1):c.1804A>G (p.Thr602Ala)	PMS1 (T426A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243047	NM_000534.5(PMS1):c.2099C>T (p.Pro700Leu)	PMS1 (P639L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543035	NM_000534.5(PMS1):c.2101T>G (p.Phe701Val)	PMS1 (F662V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1337793	NM_000534.5(PMS1):c.2146G>A (p.Val716Ile)	PMS1 (V540I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254370	NM_000534.5(PMS1):c.2195T>C (p.Phe732Ser)	PMS1 (F693S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215863	NM_000534.5(PMS1):c.2299C>G (p.Leu767Val)	PMS1 (L706V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534081	NM_000534.5(PMS1):c.2303C>T (p.Pro768Leu)	PMS1 (P768L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215864	NM_000534.5(PMS1):c.2383A>G (p.Met795Val)	PMS1 (M633V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275915	NM_000534.5(PMS1):c.2430T>G (p.Asp810Glu)	PMS1 (D634E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215865	NM_000534.5(PMS1):c.2567C>T (p.Ala856Val)	PMS1 (A817V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289358	NM_000534.5(PMS1):c.2665C>G (p.Pro889Ala)	PMS1 (P688A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215866	NM_000534.5(PMS1):c.2746G>T (p.Val916Phe)	PMS1 (V715F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295490	NM_000534.5(PMS1):c.2788G>C (p.Glu930Gln)	PMS1 (E729Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 26