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

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310818	NM_002779.5(PSD):c.3065G>A (p.Arg1022Gln)	PSD (R1022Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362045	NM_002779.5(PSD):c.3061C>T (p.Arg1021Trp)	PSD (R1021W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310815	NM_002779.5(PSD):c.3059G>A (p.Gly1020Glu)	PSD (G1020E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220138	NM_002779.5(PSD):c.3023G>C (p.Arg1008Pro)	PSD (R629P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514978	NM_002779.5(PSD):c.3014G>A (p.Arg1005Gln)	PSD (R1005Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344328	NM_002779.5(PSD):c.3013C>T (p.Arg1005Trp)	PSD (R1005W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338606	NM_002779.5(PSD):c.3013C>G (p.Arg1005Gly)	PSD (R626G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220137	NM_002779.5(PSD):c.2962C>T (p.Pro988Ser)	PSD (P609S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365686	NM_002779.5(PSD):c.2950G>A (p.Glu984Lys)	PSD (E984K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595390	NM_002779.5(PSD):c.2941G>A (p.Gly981Arg)	PSD (G981R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220136	NM_002779.5(PSD):c.2872C>G (p.Leu958Val)	PSD (L579V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312631	NM_002779.5(PSD):c.2789G>A (p.Gly930Asp)	LOC124416894, PSD (G930D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391830	NM_002779.5(PSD):c.2770G>A (p.Ala924Thr)	LOC124416894, PSD (A545T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404678	NM_002779.5(PSD):c.2713C>T (p.Arg905Trp)	LOC124416894, PSD (R905W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248598	NM_002779.5(PSD):c.2713C>G (p.Arg905Gly)	LOC124416894, PSD (R526G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220134	NM_002779.5(PSD):c.2680G>T (p.Ala894Ser)	PSD (A515S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251740	NM_002779.5(PSD):c.2665C>T (p.Pro889Ser)	PSD (P889S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318609	NM_002779.5(PSD):c.2534G>A (p.Arg845Gln)	PSD (R845Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304405	NM_002779.5(PSD):c.2333G>A (p.Arg778Gln)	PSD (R399Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394347	NM_002779.5(PSD):c.2305G>A (p.Ala769Thr)	PSD (A769T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281955	NM_002779.5(PSD):c.2285C>T (p.Ala762Val)	PSD (A762V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400655	NM_002779.5(PSD):c.2251C>T (p.Pro751Ser)	PSD (P751S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220133	NM_002779.5(PSD):c.2234C>A (p.Pro745His)	PSD (P366H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263922	NM_002779.5(PSD):c.2201G>C (p.Arg734Pro)	PSD (R734P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310820	NM_002779.5(PSD):c.2131G>A (p.Ala711Thr)	PSD (A332T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220131	NM_002779.5(PSD):c.1749C>T (p.Asn583=)	PSD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2535295	NM_002779.5(PSD):c.1723G>A (p.Asp575Asn)	PSD (D196N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549529	NM_002779.5(PSD):c.1612C>T (p.Arg538Trp)	PSD (R159W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373293	NM_002779.5(PSD):c.1369G>A (p.Ala457Thr)	PSD (A78T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220130	NM_002779.5(PSD):c.1360G>C (p.Asp454His)	PSD (D75H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326750	NM_002779.5(PSD):c.1337C>T (p.Pro446Leu)	PSD (P67L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220129	NM_002779.5(PSD):c.1175C>T (p.Thr392Met)	PSD (T392M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353277	NM_002779.5(PSD):c.1156G>T (p.Val386Leu)	PSD (V386L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363316	NM_002779.5(PSD):c.1136G>A (p.Arg379Gln)	PSD (R379Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310816	NM_002779.5(PSD):c.1135C>T (p.Arg379Trp)	PSD (R379W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310822	NM_002779.5(PSD):c.1092C>A (p.Asp364Glu)	PSD (D364E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310826	NM_002779.5(PSD):c.1036G>A (p.Gly346Ser)	PSD (G346S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354314	NM_002779.5(PSD):c.1022C>T (p.Pro341Leu)	PSD (P341L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486870	NM_002779.5(PSD):c.898G>A (p.Asp300Asn)	PSD (D300N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220141	NM_002779.5(PSD):c.845A>G (p.Lys282Arg)	PSD (K282R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330305	NM_002779.5(PSD):c.785C>A (p.Pro262Gln)	PSD (P262Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488212	NM_002779.5(PSD):c.751A>C (p.Ser251Arg)	PSD (S251R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588471	NM_002779.5(PSD):c.745C>G (p.Pro249Ala)	PSD (P249A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310817	NM_002779.5(PSD):c.691C>T (p.His231Tyr)	PSD (H231Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622423	NM_002779.5(PSD):c.593G>C (p.Gly198Ala)	PSD (G198A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591847	NM_002779.5(PSD):c.581A>G (p.Asn194Ser)	PSD (N194S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220140	NM_002779.5(PSD):c.484A>G (p.Arg162Gly)	PSD (R162G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3220139	NM_002779.5(PSD):c.311G>A (p.Arg104His)	PSD (R104H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310823	NM_002779.5(PSD):c.280C>G (p.Pro94Ala)	PSD (P94A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220135	NM_002779.5(PSD):c.273G>T (p.Gln91His)	PSD (Q91H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310821	NM_002779.5(PSD):c.262C>T (p.Pro88Ser)	PSD (P88S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310824	NM_002779.5(PSD):c.251C>T (p.Ala84Val)	PSD (A84V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487767	NM_002779.5(PSD):c.247T>G (p.Trp83Gly)	PSD (W83G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219862	NM_002779.5(PSD):c.230G>A (p.Arg77His)	PSD (R77H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357124	NM_002779.5(PSD):c.152C>A (p.Ala51Glu)	PSD (A51E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495110	NM_002779.5(PSD):c.148G>A (p.Val50Met)	PSD (V50M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310825	NM_002779.5(PSD):c.68G>A (p.Arg23His)	PSD (R23H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220132	NM_002779.5(PSD):c.19C>T (p.Arg7Cys)	PSD (R7C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 58