PSD[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	ABCC2, ABLIM1 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	LOC126861081, LOC126861082 +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	ABLIM1, ABRAXAS2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58780	GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1	ACTR1A, ARL3 +121 more	Copy number loss	See cases	GPathogenic
Select item 2362045	NM_002779.5(PSD):c.3061C>T (p.Arg1021Trp)	PSD (R1021W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 721837	NM_002779.5(PSD):c.3041G>A (p.Arg1014Gln)	PSD (R635Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2514978	NM_002779.5(PSD):c.3014G>A (p.Arg1005Gln)	PSD (R1005Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2312631	NM_002779.5(PSD):c.2789G>A (p.Gly930Asp)	PSD, LOC124416894 (G930D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 770767	NM_002779.5(PSD):c.2714G>A (p.Arg905Gln)	LOC124416894, PSD (R905Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2404678	NM_002779.5(PSD):c.2713C>T (p.Arg905Trp)	PSD, LOC124416894 (R905W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2248598	NM_002779.5(PSD):c.2713C>G (p.Arg905Gly)	PSD, LOC124416894 (R526G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 769787	NM_002779.5(PSD):c.2701-5G>A	LOC124416894, PSD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2251740	NM_002779.5(PSD):c.2665C>T (p.Pro889Ser)	PSD (P889S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 757101	NM_002779.5(PSD):c.2398-9C>T	PSD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2304405	NM_002779.5(PSD):c.2333G>A (p.Arg778Gln)	PSD (R399Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 746061	NM_002779.5(PSD):c.2040G>A (p.Gly680=)	PSD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786174	NM_002779.5(PSD):c.1975C>T (p.Leu659=)	PSD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 739565	NM_002779.5(PSD):c.1950C>T (p.Ala650=)	PSD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2535295	NM_002779.5(PSD):c.1723G>A (p.Asp575Asn)	PSD (D196N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549529	NM_002779.5(PSD):c.1612C>T (p.Arg538Trp)	PSD (R159W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373293	NM_002779.5(PSD):c.1369G>A (p.Ala457Thr)	PSD (A78T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326750	NM_002779.5(PSD):c.1337C>T (p.Pro446Leu)	PSD (P67L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353277	NM_002779.5(PSD):c.1156G>T (p.Val386Leu)	PSD (V386L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363316	NM_002779.5(PSD):c.1136G>A (p.Arg379Gln)	PSD (R379Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354314	NM_002779.5(PSD):c.1022C>T (p.Pro341Leu)	PSD (P341L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 774562	NM_002779.5(PSD):c.1006G>A (p.Gly336Ser)	PSD (G336S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2486870	NM_002779.5(PSD):c.898G>A (p.Asp300Asn)	PSD (D300N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 773540	NM_002779.5(PSD):c.825G>A (p.Val275=)	PSD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2330305	NM_002779.5(PSD):c.785C>A (p.Pro262Gln)	PSD (P262Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 757000	NM_002779.5(PSD):c.774G>A (p.Glu258=)	PSD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2488212	NM_002779.5(PSD):c.751A>C (p.Ser251Arg)	PSD (S251R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588471	NM_002779.5(PSD):c.745C>G (p.Pro249Ala)	PSD (P249A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622423	NM_002779.5(PSD):c.593G>C (p.Gly198Ala)	PSD (G198A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591847	NM_002779.5(PSD):c.581A>G (p.Asn194Ser)	PSD (N194S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 730323	NM_002779.5(PSD):c.480C>T (p.Pro160=)	PSD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 746185	NM_002779.5(PSD):c.465A>C (p.Thr155=)	PSD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2487767	NM_002779.5(PSD):c.247T>G (p.Trp83Gly)	PSD (W83G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2219862	NM_002779.5(PSD):c.230G>A (p.Arg77His)	PSD (R77H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357124	NM_002779.5(PSD):c.152C>A (p.Ala51Glu)	PSD (A51E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495110	NM_002779.5(PSD):c.148G>A (p.Val50Met)	PSD (V50M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 744259	NM_002779.5(PSD):c.30G>A (p.Ser10=)	PSD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 758273	NM_002779.5(PSD):c.27C>T (p.Cys9=)	PSD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	ABCC2, ACTR1A +95 more	Duplication	not provided	GUncertain significance
Select item 1808525	GRCh37/hg19 10q24.32(chr10:104031306-104366150)x3	ACTR1A, C10orf95 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1527599	GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)	C10orf95, CALHM1 +57 more	Copy number loss	not specified	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563771	GRCh37/hg19 10q24.32-24.33(chr10:103891057-105339973)x1	NT5C2, WBP1L +30 more	Copy number loss	not provided	GLikely pathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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Items: 67