ClinVar for Gene (Select 23550) - ClinVar

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Links from Gene

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310850	NM_012455.3(PSD4):c.388G>A (p.Ala130Thr)	PSD4 (A130T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310849	NM_012455.3(PSD4):c.2602C>T (p.Arg868Cys)	PSD4 (R868C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310848	NM_012455.3(PSD4):c.1654T>A (p.Ser552Thr)	PSD4 (S552T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310847	NM_012455.3(PSD4):c.2045C>G (p.Thr682Ser)	PSD4 (T682S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310846	NM_012455.3(PSD4):c.1715C>T (p.Pro572Leu)	PSD4 (P572L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220179	NM_012455.3(PSD4):c.860T>C (p.Leu287Pro)	PSD4 (L287P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220177	NM_012455.3(PSD4):c.808G>A (p.Ala270Thr)	PSD4 (A270T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220176	NM_012455.3(PSD4):c.757G>A (p.Ala253Thr)	PSD4 (A253T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220175	NM_012455.3(PSD4):c.703C>T (p.Pro235Ser)	PSD4 (P235S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220174	NM_012455.3(PSD4):c.608C>A (p.Ser203Tyr)	PSD4 (S203Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220173	NM_012455.3(PSD4):c.535G>A (p.Gly179Arg)	PSD4 (G179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220172	NM_012455.3(PSD4):c.530C>T (p.Thr177Met)	PSD4 (T177M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220171	NM_012455.3(PSD4):c.32C>A (p.Pro11His)	PSD4 (P11H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220170	NM_012455.3(PSD4):c.3158G>A (p.Arg1053His)	PSD4 (R1053H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220169	NM_012455.3(PSD4):c.3076G>A (p.Asp1026Asn)	PSD4 (D1026N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220167	NM_012455.3(PSD4):c.2960A>G (p.His987Arg)	PSD4 (H987R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220166	NM_012455.3(PSD4):c.2518G>A (p.Val840Met)	PSD4 (V840M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220165	NM_012455.3(PSD4):c.2443C>T (p.Leu815Phe)	PSD4 (L815F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220164	NM_012455.3(PSD4):c.2264C>T (p.Pro755Leu)	PSD4 (P755L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3220163	NM_012455.3(PSD4):c.203C>A (p.Ser68Tyr)	PSD4 (S68Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220162	NM_012455.3(PSD4):c.1801T>C (p.Phe601Leu)	PSD4 (F601L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 2617928	NM_012455.3(PSD4):c.2846C>T (p.Pro949Leu)	PSD4 (P949L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613335	NM_012455.3(PSD4):c.3081G>C (p.Glu1027Asp)	PSD4 (E1027D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609682	NM_012455.3(PSD4):c.514G>A (p.Glu172Lys)	PSD4 (E172K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602437	NM_012455.3(PSD4):c.569C>T (p.Thr190Met)	PSD4 (T190M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588045	NM_012455.3(PSD4):c.182A>T (p.Gln61Leu)	PSD4 (Q61L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560958	NM_012455.3(PSD4):c.874C>T (p.Pro292Ser)	PSD4 (P292S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541021	NM_012455.3(PSD4):c.1391C>T (p.Ser464Leu)	PSD4 (S464L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535050	NM_012455.3(PSD4):c.2957T>G (p.Leu986Arg)	PSD4 (L986R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524554	NM_012455.3(PSD4):c.854C>T (p.Ala285Val)	PSD4 (A285V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523715	NM_012455.3(PSD4):c.442C>T (p.Arg148Trp)	PSD4 (R148W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488478	NM_012455.3(PSD4):c.2746G>T (p.Val916Leu)	PSD4 (V916L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471987	NM_012455.3(PSD4):c.2773G>C (p.Glu925Gln)	PSD4 (E925Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471383	NM_012455.3(PSD4):c.1922G>A (p.Ser641Asn)	PSD4 (S641N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467472	NM_012455.3(PSD4):c.1210C>T (p.Pro404Ser)	PSD4 (P404S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465424	NM_012455.3(PSD4):c.1468T>C (p.Ser490Pro)	PSD4 (S490P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2464604	NM_012455.3(PSD4):c.2251G>A (p.Glu751Lys)	PSD4 (E751K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458535	NM_012455.3(PSD4):c.1318C>A (p.Pro440Thr)	PSD4 (P440T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403454	NM_012455.3(PSD4):c.220C>T (p.His74Tyr)	PSD4 (H74Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398837	NM_012455.3(PSD4):c.526A>G (p.Lys176Glu)	PSD4 (K176E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389853	NM_012455.3(PSD4):c.443G>A (p.Arg148Gln)	PSD4 (R148Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2385860	NM_012455.3(PSD4):c.2714C>A (p.Ser905Tyr)	PSD4 (S905Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379967	NM_012455.3(PSD4):c.1376G>A (p.Arg459Lys)	PSD4 (R459K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379094	NM_012455.3(PSD4):c.2200C>T (p.Arg734Cys)	PSD4 (R734C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378851	NM_012455.3(PSD4):c.1712G>A (p.Arg571Lys)	PSD4 (R571K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373262	NM_012455.3(PSD4):c.2869G>A (p.Glu957Lys)	PSD4 (E957K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354422	NM_012455.3(PSD4):c.2866C>G (p.Arg956Gly)	PSD4 (R956G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350760	NM_012455.3(PSD4):c.3023G>C (p.Arg1008Pro)	PSD4 (R1008P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321777	NM_012455.3(PSD4):c.1627C>A (p.His543Asn)	PSD4 (H543N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316647	NM_012455.3(PSD4):c.70A>G (p.Ser24Gly)	PSD4 (S24G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308307	NM_012455.3(PSD4):c.614C>T (p.Pro205Leu)	PSD4 (P205L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301095	NM_012455.3(PSD4):c.2879A>C (p.Glu960Ala)	LOC129934610, PSD4 (E960A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277279	NM_012455.3(PSD4):c.2591C>T (p.Thr864Met)	PSD4 (T864M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275093	NM_012455.3(PSD4):c.655G>C (p.Glu219Gln)	PSD4 (E219Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274625	NM_012455.3(PSD4):c.1639A>G (p.Arg547Gly)	PSD4 (R547G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237438	NM_012455.3(PSD4):c.1192G>A (p.Gly398Ser)	PSD4 (G398S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236639	NM_012455.3(PSD4):c.1409C>T (p.Pro470Leu)	PSD4 (P470L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225172	NM_012455.3(PSD4):c.2575G>A (p.Val859Ile)	PSD4 (V859I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223328	NM_012455.3(PSD4):c.415C>T (p.His139Tyr)	PSD4 (H139Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210104	NM_012455.3(PSD4):c.29A>G (p.His10Arg)	PSD4 (H10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209082	NM_012455.3(PSD4):c.2215G>C (p.Glu739Gln)	PSD4 (E739Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1526888	GRCh37/hg19 2q13-14.3(chr2:113188197-128144700)	ACTR3, BIN1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1341214	GRCh37/hg19 2q13(chr2:113295194-114085649)x3	CHCHD5, CKAP2L +14 more	Copy number gain	not provided	GUncertain significance
Select item 1340383	GRCh37/hg19 2q13-14.1(chr2:113609489-115817535)x3	ACTR3, CBWD2 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 980470	GRCh37/hg19 2q13(chr2:113853399-114095549)x1	PAX8, IL1RN +1 more	Copy number loss	not provided	GPathogenic
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 562577	GRCh37/hg19 2q13(chr2:113698135-114064263)x1	IL36G, IL1RN +6 more	Copy number loss	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 253673	GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1	BUB1, PSD4 +53 more	Copy number loss	See cases	GPathogenic
Select item 253541	GRCh37/hg19 2q12.3-14.1(chr2:109556627-117570152)x1	TMEM87B, IL37 +40 more	Copy number loss	See cases	GPathogenic
Select item 253388	GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1	RGPD8, ACTR3 +63 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 78