ClinVar for Gene (Select 23362) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310845	NM_015310.4(PSD3):c.2041A>G (p.Thr681Ala)	PSD3 (T122A +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310844	NM_015310.4(PSD3):c.1931C>G (p.Ser644Cys)	PSD3 (S110C +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310843	NM_015310.4(PSD3):c.1705G>C (p.Glu569Gln)	PSD3 (E568Q +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310842	NM_015310.4(PSD3):c.2327A>G (p.Asp776Gly)	PSD3 (D711G +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310841	NM_015310.4(PSD3):c.2659G>A (p.Gly887Arg)	PSD3 (G203R +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310839	NM_015310.4(PSD3):c.2228A>C (p.Glu743Ala)	PSD3 (E710A +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3245556	NC_000008.10:g.(?_17915043)_(20112692_?)del	ASAH1-AS1, ATP6V1B2 +10 more	Deletion	not provided	GPathogenic
Select item 3220161	NM_015310.4(PSD3):c.781C>T (p.His261Tyr)	PSD3 (H227Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220160	NM_015310.4(PSD3):c.3001G>A (p.Glu1001Lys)	PSD3 (E1001K +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220159	NM_015310.4(PSD3):c.2823G>T (p.Gln941His)	PSD3 (Q143H +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220158	NM_015310.4(PSD3):c.2647G>A (p.Glu883Lys)	PSD3 (E849K +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220157	NM_015310.4(PSD3):c.2606C>G (p.Thr869Ser)	PSD3 (T198S +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220156	NM_015310.4(PSD3):c.2489A>C (p.Tyr830Ser)	PSD3 (Y271S +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220155	NM_015310.4(PSD3):c.2255C>G (p.Thr752Ser)	PSD3 (T216S +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220154	NM_015310.4(PSD3):c.196A>G (p.Met66Val)	PSD3 (M32V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220153	NM_015310.4(PSD3):c.1712C>A (p.Pro571Gln)	PSD3 (P538Q +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3046045	NM_015310.4(PSD3):c.1565C>T (p.Thr522Ile)	PSD3 (T457I +6 more)	Single nucleotide variant (missense variant)	PSD3-related disorder	GLikely benign
Select item 2685303	GRCh37/hg19 8p22(chr8:18572341-18814398)x1	PSD3	Copy number loss	not provided	GUncertain significance
Select item 2685302	GRCh37/hg19 8p22(chr8:18502293-18603518)x1	PSD3	Copy number loss	not provided	GUncertain significance
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684532	GRCh37/hg19 8p22(chr8:17782821-18519318)x3	ASAH1, ASAH1-AS1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2658456	NM_015310.4(PSD3):c.1173A>G (p.Glu391=)	PSD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2630850	NM_015310.4(PSD3):c.1241T>A (p.Ile414Asn)	PSD3 (I349N +6 more)	Single nucleotide variant (missense variant)	PSD3-related disorder	GUncertain significance
Select item 2629794	NM_015310.4(PSD3):c.2387A>G (p.His796Arg)	PSD3 (H112R +14 more)	Single nucleotide variant (missense variant +1 more)	PSD3-related disorder	GUncertain significance
Select item 2606182	NM_015310.4(PSD3):c.1714G>A (p.Glu572Lys)	PSD3 (E538K +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2553862	NM_015310.4(PSD3):c.2008A>G (p.Thr670Ala)	PSD3 (T636A +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531599	NM_015310.4(PSD3):c.2746C>T (p.Arg916Cys)	PSD3 (R851C +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528646	NM_015310.4(PSD3):c.2024A>G (p.Asp675Gly)	PSD3 (D141G +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518149	NM_015310.4(PSD3):c.1673C>T (p.Ser558Phe)	PSD3 (S524F +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517632	NM_015310.4(PSD3):c.3080G>A (p.Arg1027His)	PSD3 (R1027H +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514473	NM_015310.4(PSD3):c.2009C>T (p.Thr670Ile)	PSD3 (T669I +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474948	NM_015310.4(PSD3):c.2161G>T (p.Asp721Tyr)	PSD3 (D162Y +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464275	NM_015310.4(PSD3):c.2326G>A (p.Asp776Asn)	PSD3 (D217N +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2445493	NC_000008.10:g.(?_17915043)_(20112692_?)dup	ASAH1, ASAH1-AS1 +10 more	Duplication	not provided	GUncertain significance
Select item 2409581	NM_015310.4(PSD3):c.2794C>A (p.Leu932Met)	PSD3 (L134M +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387186	NM_015310.4(PSD3):c.635G>T (p.Ser212Ile)	PSD3 (S147I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385002	NM_015310.4(PSD3):c.2348C>G (p.Ala783Gly)	PSD3 (A718G +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374214	NM_015310.4(PSD3):c.2297G>A (p.Arg766His)	PSD3 (R230H +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372353	NM_015310.4(PSD3):c.2833G>A (p.Glu945Lys)	PSD3 (E147K +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343599	NM_015310.4(PSD3):c.3107G>A (p.Arg1036Gln)	PSD3 (R1002Q +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335756	NM_015310.4(PSD3):c.2728T>G (p.Ser910Ala)	PSD3 (S374A +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329079	NM_015310.4(PSD3):c.2125C>G (p.Leu709Val)	PSD3 (L25V +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324997	NM_015310.4(PSD3):c.1657C>T (p.Arg553Trp)	PSD3 (R19W +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317220	NM_015310.4(PSD3):c.2726G>A (p.Gly909Asp)	PSD3 (G1037D +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305768	NM_015310.4(PSD3):c.2755C>G (p.Leu919Val)	PSD3 (L383V +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301803	NM_015310.4(PSD3):c.2120C>A (p.Ala707Glu)	PSD3 (A148E +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286080	NM_015310.4(PSD3):c.2055G>T (p.Met685Ile)	PSD3 (M151I +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282136	NM_015310.4(PSD3):c.2558C>G (p.Ser853Cys)	PSD3 (S294C +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276638	NM_015310.4(PSD3):c.3047C>T (p.Pro1016Leu)	PSD3 (P1016L +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274466	NM_015310.4(PSD3):c.2014G>A (p.Ala672Thr)	PSD3 (A138T +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273679	NM_015310.4(PSD3):c.2590G>A (p.Val864Met)	PSD3 (V66M +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269049	NM_015310.4(PSD3):c.3026A>C (p.His1009Pro)	PSD3 (H1110P +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264425	NM_015310.4(PSD3):c.1388C>T (p.Thr463Ile)	PSD3 (T398I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244550	NM_015310.4(PSD3):c.3050A>C (p.Asp1017Ala)	PSD3 (D483A +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242095	NM_015310.4(PSD3):c.496G>T (p.Val166Phe)	PSD3 (V166F +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233365	NM_015310.4(PSD3):c.1631G>A (p.Gly544Glu)	PSD3 (G544E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225532	NM_015310.4(PSD3):c.2105G>T (p.Cys702Phe)	PSD3 (C637F +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219827	NM_015310.4(PSD3):c.532C>T (p.Arg178Cys)	PSD3 (R113C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216953	NM_015310.4(PSD3):c.3023C>T (p.Ser1008Leu)	PSD3 (S978L +15 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808926	GRCh37/hg19 8p22(chr8:18048191-18471418)x3	NAT1, NAT2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1807751	GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	AGPAT5, ANGPT2 +93 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527422	GRCh37/hg19 8p22-21.3(chr8:15935542-19321304)	ASAH1, ASAH1-AS1 +17 more	Copy number gain	not specified	GUncertain significance
Select item 1377072	NC_000008.10:g.(?_16850399)_(20112692_?)dup	ASAH1, ASAH1-AS1 +21 more	Duplication	Hereditary spastic paraplegia 53	GUncertain significance
Select item 1341283	GRCh37/hg19 8p22-21.3(chr8:18753838-19044726)x3	PSD3	Copy number gain	not provided	GUncertain significance
Select item 1339981	GRCh37/hg19 8p22-21.3(chr8:18444762-19535758)x3	CSGALNACT1, PSD3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 980309	GRCh37/hg19 8p22-21.3(chr8:18827276-19340019)x3	CSGALNACT1, PSD3 +1 more	Copy number gain	not provided	GLikely benign
Select item 980305	GRCh37/hg19 8p22(chr8:17878070-18529463)x3	ASAH1, ASAH1-AS1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 980304	GRCh37/hg19 8p22(chr8:18729346-18814062)x1	PSD3	Copy number loss	not provided	GUncertain significance
Select item 816790	NM_015310.4(PSD3):c.437T>C (p.Ile146Thr)	PSD3 (I113T +1 more)	Single nucleotide variant (missense variant)	Flexion contracture	GUncertain significance
Select item 791164	NM_015310.4(PSD3):c.1261G>T (p.Val421Phe)	PSD3 (V421F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 786775	NM_015310.4(PSD3):c.441C>T (p.Ser147=)	PSD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781119	NM_015310.4(PSD3):c.419C>T (p.Ala140Val)	PSD3 (A140V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777634	NM_015310.4(PSD3):c.1046G>T (p.Gly349Val)	PSD3 (G316V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776288	NM_015310.4(PSD3):c.1147C>T (p.Arg383Cys)	PSD3 (R350C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776287	NM_015310.4(PSD3):c.1644G>A (p.Gly548=)	PSD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774199	NM_015310.4(PSD3):c.1024C>T (p.Arg342Cys)	PSD3 (R309C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 770569	NM_015310.4(PSD3):c.1925C>A (p.Ala642Glu)	PSD3 (A609E +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 749998	NM_015310.4(PSD3):c.948C>T (p.Thr316=)	PSD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731606	NM_015310.4(PSD3):c.672C>G (p.Asp224Glu)	PSD3 (D191E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 726772	NM_015310.4(PSD3):c.1594A>C (p.Ile532Leu)	PSD3 (I532L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 719804	NM_015310.4(PSD3):c.312C>T (p.Leu104=)	PSD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719443	NM_015310.4(PSD3):c.2862C>T (p.Pro954=)	PSD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713792	NM_015310.4(PSD3):c.338A>T (p.Asp113Val)	PSD3 (D80V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 689253	GRCh37/hg19 8p22(chr8:18641302-18669765)x3	PSD3	Copy number gain	not provided	GUncertain significance
Select item 688809	GRCh37/hg19 8p22-21.3(chr8:18753362-19000923)x3	PSD3	Copy number gain	not provided	GUncertain significance

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