PSD4[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3220171	NM_012455.3(PSD4):c.32C>A (p.Pro11His)	PSD4 (P11H)	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 2588045	NM_012455.3(PSD4):c.182A>T (p.Gln61Leu)	PSD4 (Q61L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2403454	NM_012455.3(PSD4):c.220C>T (p.His74Tyr)	PSD4 (H74Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2223328	NM_012455.3(PSD4):c.415C>T (p.His139Tyr)	PSD4 (H139Y)	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 2389853	NM_012455.3(PSD4):c.443G>A (p.Arg148Gln)	PSD4 (R148Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2398837	NM_012455.3(PSD4):c.526A>G (p.Lys176Glu)	PSD4 (K176E)	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 3220173	NM_012455.3(PSD4):c.535G>A (p.Gly179Arg)	PSD4 (G179R)	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 3220174	NM_012455.3(PSD4):c.608C>A (p.Ser203Tyr)	PSD4 (S203Y)	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 2275093	NM_012455.3(PSD4):c.655G>C (p.Glu219Gln)	PSD4 (E219Q)	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 3220176	NM_012455.3(PSD4):c.757G>A (p.Ala253Thr)	PSD4 (A253T)	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 2524554	NM_012455.3(PSD4):c.854C>T (p.Ala285Val)	PSD4 (A285V)	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 2560958	NM_012455.3(PSD4):c.874C>T (p.Pro292Ser)	PSD4 (P292S)	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 2467472	NM_012455.3(PSD4):c.1210C>T (p.Pro404Ser)	PSD4 (P404S)	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 2379967	NM_012455.3(PSD4):c.1376G>A (p.Arg459Lys)	PSD4 (R459K)	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 2236639	NM_012455.3(PSD4):c.1409C>T (p.Pro470Leu)	PSD4 (P470L)	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 2321777	NM_012455.3(PSD4):c.1627C>A (p.His543Asn)	PSD4 (H543N)	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 3310848	NM_012455.3(PSD4):c.1654T>A (p.Ser552Thr)	PSD4 (S552T)	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 3310846	NM_012455.3(PSD4):c.1715C>T (p.Pro572Leu)	PSD4 (P572L)	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 2471383	NM_012455.3(PSD4):c.1922G>A (p.Ser641Asn)	PSD4 (S641N)	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 2379094	NM_012455.3(PSD4):c.2200C>T (p.Arg734Cys)	PSD4 (R734C)	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 2464604	NM_012455.3(PSD4):c.2251G>A (p.Glu751Lys)	PSD4 (E751K)	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 3220165	NM_012455.3(PSD4):c.2443C>T (p.Leu815Phe)	PSD4 (L815F)	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 2225172	NM_012455.3(PSD4):c.2575G>A (p.Val859Ile)	PSD4 (V859I)	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 3310849	NM_012455.3(PSD4):c.2602C>T (p.Arg868Cys)	PSD4 (R868C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2617928	NM_012455.3(PSD4):c.2846C>T (p.Pro949Leu)	PSD4 (P949L)	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 2373262	NM_012455.3(PSD4):c.2869G>A (p.Glu957Lys)	PSD4 (E957K)	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 2535050	NM_012455.3(PSD4):c.2957T>G (p.Leu986Arg)	PSD4 (L986R)	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 2350760	NM_012455.3(PSD4):c.3023G>C (p.Arg1008Pro)	PSD4 (R1008P)	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 2613335	NM_012455.3(PSD4):c.3081G>C (p.Glu1027Asp)	PSD4 (E1027D)	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 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 78