"Ambry Genetics"[submitter] AND "PM20D1"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2364967	NM_152491.5(PM20D1):c.1459C>A (p.Gln487Lys)	PM20D1 (Q487K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215774	NM_152491.5(PM20D1):c.1447T>G (p.Phe483Val)	PM20D1 (F483V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591228	NM_152491.5(PM20D1):c.1399A>C (p.Asn467His)	PM20D1 (N467H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410905	NM_152491.5(PM20D1):c.1384C>T (p.Arg462Cys)	PM20D1 (R462C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309065	NM_152491.5(PM20D1):c.1339A>T (p.Ile447Phe)	PM20D1 (I447F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624097	NM_152491.5(PM20D1):c.1295T>C (p.Ile432Thr)	PM20D1 (I432T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473653	NM_152491.5(PM20D1):c.1262C>T (p.Pro421Leu)	PM20D1 (P421L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326626	NM_152491.5(PM20D1):c.1246G>A (p.Val416Ile)	PM20D1 (V416I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3215773	NM_152491.5(PM20D1):c.1238G>A (p.Arg413His)	PM20D1 (R413H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485707	NM_152491.5(PM20D1):c.1205C>T (p.Ser402Phe)	PM20D1 (S402F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294727	NM_152491.5(PM20D1):c.1195G>A (p.Val399Ile)	PM20D1 (V399I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3215772	NM_152491.5(PM20D1):c.1192C>A (p.Pro398Thr)	PM20D1 (P398T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215771	NM_152491.5(PM20D1):c.1087C>T (p.Arg363Trp)	PM20D1 (R363W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494282	NM_152491.5(PM20D1):c.1049A>G (p.Asn350Ser)	PM20D1 (N350S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379411	NM_152491.5(PM20D1):c.1013C>A (p.Thr338Lys)	PM20D1 (T338K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507445	NM_152491.5(PM20D1):c.824G>A (p.Ser275Asn)	PM20D1 (S275N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250193	NM_152491.5(PM20D1):c.800T>C (p.Ile267Thr)	PM20D1 (I267T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618993	NM_152491.5(PM20D1):c.775T>G (p.Ser259Ala)	PM20D1 (S259A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208381	NM_152491.5(PM20D1):c.703G>A (p.Ala235Thr)	PM20D1 (A235T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304925	NM_152491.5(PM20D1):c.697C>T (p.Pro233Ser)	PM20D1 (P233S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331930	NM_152491.5(PM20D1):c.670G>A (p.Asp224Asn)	PM20D1 (D224N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293607	NM_152491.5(PM20D1):c.626G>A (p.Gly209Asp)	PM20D1 (G209D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215775	NM_152491.5(PM20D1):c.602T>A (p.Ile201Asn)	PM20D1 (I201N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589293	NM_152491.5(PM20D1):c.472G>A (p.Asp158Asn)	PM20D1 (D158N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2305709	NM_152491.5(PM20D1):c.466C>G (p.Leu156Val)	PM20D1 (L156V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394389	NM_152491.5(PM20D1):c.413T>A (p.Val138Glu)	PM20D1 (V138E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380086	NM_152491.5(PM20D1):c.338C>T (p.Ser113Leu)	PM20D1 (S113L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234156	NM_152491.5(PM20D1):c.302T>C (p.Val101Ala)	PM20D1 (V101A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598091	NM_152491.5(PM20D1):c.238G>A (p.Gly80Arg)	PM20D1 (G80R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532620	NM_152491.5(PM20D1):c.145G>C (p.Val49Leu)	PM20D1 (V49L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553789	NM_152491.5(PM20D1):c.116T>A (p.Ile39Asn)	PM20D1 (I39N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215770	NM_152491.5(PM20D1):c.101A>G (p.Gln34Arg)	PM20D1 (Q34R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244160	NM_152491.5(PM20D1):c.16G>A (p.Val6Ile)	PM20D1 (V6I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 33