PSD2[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 2221564	NM_032289.4(PSD2):c.52C>T (p.Arg18Cys)	PSD2 (R18C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709213	NM_032289.4(PSD2):c.60C>T (p.Pro20=)	PSD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780566	NM_032289.4(PSD2):c.86G>A (p.Gly29Glu)	PSD2 (G29E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2284316	NM_032289.4(PSD2):c.91C>T (p.Arg31Trp)	PSD2 (R31W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780567	NM_032289.4(PSD2):c.92G>A (p.Arg31Gln)	PSD2 (R31Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3220142	NM_032289.4(PSD2):c.149G>A (p.Arg50Gln)	PSD2 (R50Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375757	NM_032289.4(PSD2):c.256G>A (p.Asp86Asn)	PSD2 (D86N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226329	NM_032289.4(PSD2):c.281C>T (p.Ala94Val)	PSD2 (A94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310834	NM_032289.4(PSD2):c.328G>T (p.Ala110Ser)	PSD2 (A110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570564	NM_032289.4(PSD2):c.332C>T (p.Ser111Phe)	PSD2 (S111F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310838	NM_032289.4(PSD2):c.361C>G (p.Pro121Ala)	PSD2 (P121A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310827	NM_032289.4(PSD2):c.383C>T (p.Pro128Leu)	PSD2 (P128L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220147	NM_032289.4(PSD2):c.385G>A (p.Gly129Arg)	PSD2 (G129R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220148	NM_032289.4(PSD2):c.401G>A (p.Arg134Gln)	PSD2 (R134Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310829	NM_032289.4(PSD2):c.451C>T (p.Arg151Trp)	PSD2 (R151W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310837	NM_032289.4(PSD2):c.455G>A (p.Gly152Asp)	PSD2 (G152D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347207	NM_032289.4(PSD2):c.500C>T (p.Thr167Met)	PSD2 (T167M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616862	NM_032289.4(PSD2):c.531G>T (p.Glu177Asp)	PSD2 (E177D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370306	NM_032289.4(PSD2):c.559C>T (p.Arg187Trp)	PSD2 (R187W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220149	NM_032289.4(PSD2):c.607A>T (p.Met203Leu)	PSD2 (M203L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215613	NM_032289.4(PSD2):c.650A>G (p.Glu217Gly)	PSD2 (E217G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214270	NM_032289.4(PSD2):c.689G>A (p.Arg230His)	PSD2 (R230H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379206	NM_032289.4(PSD2):c.721A>G (p.Met241Val)	PSD2 (M241V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220151	NM_032289.4(PSD2):c.767G>C (p.Gly256Ala)	PSD2 (G256A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367329	NM_032289.4(PSD2):c.793G>A (p.Asp265Asn)	PSD2 (D265N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350313	NM_032289.4(PSD2):c.801C>G (p.Asp267Glu)	PSD2 (D267E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514581	NM_032289.4(PSD2):c.818C>G (p.Ala273Gly)	PSD2 (A273G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260556	NM_032289.4(PSD2):c.844C>A (p.Leu282Met)	PSD2 (L282M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317365	NM_032289.4(PSD2):c.847T>C (p.Ser283Pro)	PSD2 (S283P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220152	NM_032289.4(PSD2):c.860C>G (p.Ser287Cys)	PSD2 (S287C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381476	NM_032289.4(PSD2):c.905C>T (p.Pro302Leu)	PSD2 (P302L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265090	NM_032289.4(PSD2):c.917G>T (p.Gly306Val)	PSD2 (G306V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487172	NM_032289.4(PSD2):c.969C>G (p.His323Gln)	PSD2 (H323Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357215	NM_032289.4(PSD2):c.973G>A (p.Glu325Lys)	PSD2 (E325K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310833	NM_032289.4(PSD2):c.1000C>T (p.Arg334Trp)	PSD2 (R334W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326062	NM_032289.4(PSD2):c.1052T>G (p.Leu351Arg)	PSD2 (L351R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552446	NM_032289.4(PSD2):c.1456G>A (p.Gly486Arg)	PSD2 (G486R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603087	NM_032289.4(PSD2):c.1478C>T (p.Thr493Met)	PSD2 (T493M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225182	NM_032289.4(PSD2):c.1523C>T (p.Ala508Val)	PSD2 (A508V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330958	NM_032289.4(PSD2):c.1549G>A (p.Gly517Ser)	PSD2 (G517S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261666	NM_032289.4(PSD2):c.1552G>A (p.Val518Ile)	PSD2 (V518I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407370	NM_032289.4(PSD2):c.1580T>C (p.Met527Thr)	PSD2 (M527T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220144	NM_032289.4(PSD2):c.1604G>A (p.Gly535Glu)	PSD2 (G535E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594887	NM_032289.4(PSD2):c.1673A>G (p.Tyr558Cys)	PSD2 (Y558C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321160	NM_032289.4(PSD2):c.1723G>A (p.Val575Met)	PSD2 (V575M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310832	NM_032289.4(PSD2):c.1735C>G (p.Leu579Val)	PSD2 (L579V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407704	NM_032289.4(PSD2):c.1792G>A (p.Ala598Thr)	PSD2 (A598T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297896	NM_032289.4(PSD2):c.1827C>G (p.Ser609Arg)	PSD2 (S609R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310831	NM_032289.4(PSD2):c.1930C>T (p.Arg644Trp)	PSD2 (R644W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550350	NM_032289.4(PSD2):c.1931G>T (p.Arg644Leu)	PSD2 (R644L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310835	NM_032289.4(PSD2):c.1957C>T (p.Arg653Cys)	PSD2 (R653C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508827	NM_032289.4(PSD2):c.1967A>G (p.Gln656Arg)	PSD2 (Q656R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306621	NM_032289.4(PSD2):c.2003G>A (p.Arg668Lys)	PSD2 (R668K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282384	NM_032289.4(PSD2):c.2077G>A (p.Glu693Lys)	PSD2 (E693K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364686	NM_032289.4(PSD2):c.2079G>C (p.Glu693Asp)	PSD2 (E693D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280275	NM_032289.4(PSD2):c.2120G>A (p.Arg707His)	PSD2 (R707H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514272	NM_032289.4(PSD2):c.2134A>G (p.Ile712Val)	PSD2 (I712V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611699	NM_032289.4(PSD2):c.2182C>G (p.Arg728Gly)	PSD2 (R728G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220145	NM_032289.4(PSD2):c.2183G>A (p.Arg728Gln)	PSD2 (R728Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249019	NM_032289.4(PSD2):c.2191G>A (p.Ala731Thr)	PSD2 (A731T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310828	NM_032289.4(PSD2):c.2210A>T (p.Glu737Val)	PSD2 (E737V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464934	NM_032289.4(PSD2):c.2230C>T (p.Arg744Trp)	PSD2 (R744W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310836	NM_032289.4(PSD2):c.2231G>A (p.Arg744Gln)	PSD2 (R744Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296798	NM_032289.4(PSD2):c.2264G>T (p.Gly755Val)	PSD2 (G755V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425421	NC_000005.9:g.(?_136957787)_(140078137_?)dup	ANKHD1, ANKHD1-EIF4EBP3 +53 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 1340844	GRCh37/hg19 5q31.2(chr5:138675227-139314012)x1	CXXC5, DNAJC18 +10 more	Copy number loss	not provided	GUncertain significance
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	APBB3, BRD8 +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563111	GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1	PCDHA13, PCDHGB5 +92 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 81