8622[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 59627	GRCh38/hg38 5q13.3-14.1(chr5:77018109-78190068)x1	AGGF1, AP3B1 +23 more	Copy number loss	See cases	GPathogenic
Select item 905760	NM_003719.5(PDE8B):c.-44C>T	PDE8B	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 354142	NM_003719.5(PDE8B):c.-24C>T	PDE8B	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 354143	NM_003719.5(PDE8B):c.-23G>T	PDE8B	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant striatal neurodegeneration type 1	GBenign
Select item 906272	NM_003719.5(PDE8B):c.-19G>T	PDE8B	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 1315609	NM_003719.5(PDE8B):c.4G>A (p.Gly2Ser)	PDE8B (G2S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3210791	NM_003719.5(PDE8B):c.11C>T (p.Ala4Val)	PDE8B (A4V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1482681	NM_003719.5(PDE8B):c.19A>T (p.Ile7Phe)	PDE8B (I7F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2796952	NM_003719.5(PDE8B):c.21C>A (p.Ile7=)	PDE8B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 354144	NM_003719.5(PDE8B):c.52C>A (p.Arg18=)	PDE8B	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 2778582	NM_003719.5(PDE8B):c.63C>A (p.Asp21Glu)	PDE8B (D21E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 354145	NM_003719.5(PDE8B):c.63C>T (p.Asp21=)	PDE8B	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant striatal neurodegeneration type 1 +1 more	GBenign
Select item 2088030	NM_003719.5(PDE8B):c.70A>G (p.Ser24Gly)	PDE8B (S24G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2265443	NM_003719.5(PDE8B):c.73T>G (p.Ser25Ala)	PDE8B (S25A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 235862	NM_003719.5(PDE8B):c.79del (p.Arg27fs)	PDE8B (R27fs)	Deletion (frameshift variant +2 more)	Autosomal dominant striatal neurodegeneration type 1	GPathogenic
Select item 2982404	NM_003719.5(PDE8B):c.78C>A (p.Pro26=)	PDE8B	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2982405	NM_003719.5(PDE8B):c.84G>A (p.Gln28=)	PDE8B	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 1559893	NM_003719.5(PDE8B):c.87C>T (p.Thr29=)	PDE8B	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2705237	NM_003719.5(PDE8B):c.94G>A (p.Val32Met)	PDE8B (V32M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1184901	NM_003719.5(PDE8B):c.94del (p.Val32fs)	PDE8B (V32fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 6391	NM_003719.5(PDE8B):c.94_95delinsC (p.Val32fs)	PDE8B (V32fs)	Indel (frameshift variant +2 more)	Autosomal dominant striatal neurodegeneration type 1	GPathogenic
Select item 1184955	NM_003719.5(PDE8B):c.95T>C (p.Val32Ala)	PDE8B (V32A)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 1484253	NM_003719.5(PDE8B):c.107C>G (p.Pro36Arg)	PDE8B (P36R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 354146	NM_003719.5(PDE8B):c.125G>C (p.Gly42Ala)	PDE8B (G42A)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant striatal neurodegeneration type 1 +1 more	GUncertain significance
Select item 3063988	NM_003719.5(PDE8B):c.129C>T (p.Leu43=)	PDE8B	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 1490591	NM_003719.5(PDE8B):c.143A>T (p.Asp48Val)	PDE8B (D48V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 354147	NM_003719.5(PDE8B):c.156C>T (p.Ala52=)	PDE8B	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2216252	NM_003719.5(PDE8B):c.169C>G (p.Arg57Gly)	PDE8B (R57G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1493885	NM_003719.5(PDE8B):c.181C>A (p.Pro61Thr)	PDE8B (P61T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1944124	NM_003719.5(PDE8B):c.183C>G (p.Pro61=)	PDE8B	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1517092	NM_003719.5(PDE8B):c.193G>C (p.Ala65Pro)	PDE8B (A65P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1800733	NM_003719.5(PDE8B):c.205A>G (p.Arg69Gly)	PDE8B (R69G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2655549	NM_003719.5(PDE8B):c.208G>T (p.Ala70Ser)	PDE8B (A70S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 976373	NM_003719.5(PDE8B):c.211C>T (p.Arg71Cys)	PDE8B (R71C)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 1915045	NM_003719.5(PDE8B):c.218A>C (p.Glu73Ala)	PDE8B (E73A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2662050	NM_003719.5(PDE8B):c.224G>A (p.Gly75Asp)	PDE8B (G75D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2054134	NM_003719.5(PDE8B):c.229G>A (p.Gly77Ser)	PDE8B (G77S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2712997	NM_003719.5(PDE8B):c.247G>C (p.Ala83Pro)	PDE8B (A83P)	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 3069012	NM_003719.5(PDE8B):c.256G>A (p.Ala86Thr)	PDE8B (A86T)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 3210794	NM_003719.5(PDE8B):c.277C>G (p.Arg93Gly)	PDE8B (R93G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 354148	NM_003719.5(PDE8B):c.280A>G (p.Arg94Gly)	PDE8B (R94G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 235863	NM_003719.5(PDE8B):c.304G>T (p.Glu102Ter)	PDE8B (E102*)	Single nucleotide variant (nonsense +2 more)	Autosomal dominant striatal neurodegeneration type 1	GPathogenic
Select item 791030	NM_003719.5(PDE8B):c.306G>A (p.Glu102=)	PDE8B	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2611068	NM_003719.5(PDE8B):c.328_329del (p.Thr110fs)	PDE8B (T110fs)	Microsatellite (frameshift variant +2 more)	Inborn genetic diseases	GPathogenic
Select item 2237228	NM_003719.5(PDE8B):c.326A>G (p.Tyr109Cys)	PDE8B (Y109C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1497067	NM_003719.5(PDE8B):c.329C>T (p.Thr110Ile)	PDE8B (T110I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2554414	NM_003719.5(PDE8B):c.334G>A (p.Val112Met)	PDE8B (V112M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 755563	NM_003719.5(PDE8B):c.339+8C>A	PDE8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1645643	NM_003719.5(PDE8B):c.339+15C>G	PDE8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1592222	NM_003719.5(PDE8B):c.339+40123C>T	PDE8B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1430775	NM_003719.5(PDE8B):c.354G>A (p.Ala118=)	PDE8B	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 354149	NM_003719.5(PDE8B):c.362G>A (p.Arg121His)	PDE8B (R121H +6 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 2175139	NM_003719.5(PDE8B):c.384G>A (p.Thr128=)	PDE8B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1940006	NM_003719.5(PDE8B):c.399+4C>T	PDE8B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1978353	NM_003719.5(PDE8B):c.400-19C>T	PDE8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 354150	NM_003719.5(PDE8B):c.400-7G>T	PDE8B	Single nucleotide variant (intron variant)	Autosomal dominant striatal neurodegeneration type 1 +1 more	GBenign/Likely benign
Select item 2282830	NM_003719.5(PDE8B):c.435C>G (p.Ser145Arg)	PDE8B (S21R +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 354151	NM_003719.5(PDE8B):c.435C>T (p.Ser145=)	PDE8B	Single nucleotide variant (synonymous variant)	Autosomal dominant striatal neurodegeneration type 1 +1 more	GBenign
Select item 2420138	NM_003719.5(PDE8B):c.465T>C (p.Ala155=)	PDE8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1427397	NM_003719.5(PDE8B):c.487C>T (p.Arg163Trp)	PDE8B (R39W +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976144	NM_003719.5(PDE8B):c.497A>C (p.Glu166Ala)	PDE8B (E187A +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075192	NM_003719.5(PDE8B):c.535A>C (p.Ile179Leu)	PDE8B (I178L +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 354152	NM_003719.5(PDE8B):c.552T>C (p.His184=)	PDE8B	Single nucleotide variant (synonymous variant)	Autosomal dominant striatal neurodegeneration type 1 +1 more	GBenign
Select item 907271	NM_003719.5(PDE8B):c.570C>T (p.Phe190=)	PDE8B	Single nucleotide variant (synonymous variant)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 1943034	NM_003719.5(PDE8B):c.571G>A (p.Asp191Asn)	PDE8B (D110N +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2302394	NM_003719.5(PDE8B):c.574G>A (p.Ala192Thr)	PDE8B (A192T +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 354153	NM_003719.5(PDE8B):c.591-7A>G	PDE8B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 907272	NM_003719.5(PDE8B):c.593C>T (p.Ser198Leu)	PDE8B (S117L +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2258851	NM_003719.5(PDE8B):c.601G>T (p.Ala201Ser)	PDE8B (A80S +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1593012	NM_003719.5(PDE8B):c.615C>T (p.Ser205=)	PDE8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2588159	NM_003719.5(PDE8B):c.647G>A (p.Arg216Gln)	PDE8B (R114Q +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1910749	NM_003719.5(PDE8B):c.650+13C>T	PDE8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2708714	NM_003719.5(PDE8B):c.653C>T (p.Ser218Leu)	PDE8B (S117L +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 720865	NM_003719.5(PDE8B):c.654G>A (p.Ser218=)	PDE8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2261950	NM_003719.5(PDE8B):c.661C>T (p.His221Tyr)	PDE8B (H100Y +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2573511	NM_003719.5(PDE8B):c.671C>T (p.Ala224Val)	PDE8B (A100V +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 354154	NM_003719.5(PDE8B):c.672G>A (p.Ala224=)	PDE8B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1914206	NM_003719.5(PDE8B):c.694G>T (p.Ala232Ser)	PDE8B (A130S +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2315558	NM_003719.5(PDE8B):c.736G>T (p.Ala246Ser)	PDE8B (A165S +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1472202	NM_003719.5(PDE8B):c.764A>C (p.Glu255Ala)	PDE8B (E154A +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2419232	NM_003719.5(PDE8B):c.783C>T (p.Ser261=)	PDE8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 907273	NM_003719.5(PDE8B):c.796C>T (p.Arg266Trp)	PDE8B (R246W +9 more)	Single nucleotide variant (missense variant)	Autosomal dominant striatal neurodegeneration type 1	GLikely benign
Select item 1901059	NM_003719.5(PDE8B):c.798-13T>C	PDE8B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2976591	NM_003719.5(PDE8B):c.798-12T>G	PDE8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3210795	NM_003719.5(PDE8B):c.811G>C (p.Val271Leu)	PDE8B (V150L +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1691196	NM_003719.5(PDE8B):c.818C>T (p.Thr273Ile)	PDE8B (T149I +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 354155	NM_003719.5(PDE8B):c.858C>T (p.Ser286=)	PDE8B	Single nucleotide variant (synonymous variant)	Autosomal dominant striatal neurodegeneration type 1 +1 more	GBenign
Select item 2969028	NM_003719.5(PDE8B):c.868G>A (p.Val290Met)	PDE8B (V166M +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973919	NM_003719.5(PDE8B):c.876+14C>G	PDE8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 903930	NM_003719.5(PDE8B):c.876+15C>T	PDE8B	Single nucleotide variant (intron variant)	Autosomal dominant striatal neurodegeneration type 1	GLikely benign
Select item 2960360	NM_003719.5(PDE8B):c.877-19A>G	PDE8B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 931113	NM_003719.5(PDE8B):c.878A>G (p.Tyr293Cys)	PDE8B (Y273C +8 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 3233764	NM_003719.5(PDE8B):c.895G>T (p.Glu299Ter)	PDE8B (E175* +8 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis type 1 +1 more	GPathogenic
Select item 6390	NM_003719.5(PDE8B):c.914A>C (p.His305Pro)	PDE8B (H305P +8 more)	Single nucleotide variant (missense variant +1 more)	Pigmented nodular adrenocortical disease, primary, 3	GPathogenic
Select item 1602514	NM_003719.5(PDE8B):c.930G>A (p.Leu310=)	PDE8B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2232912	NM_003719.5(PDE8B):c.935A>G (p.Lys312Arg)	PDE8B (K191R +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2427819	NM_003719.5(PDE8B):c.971G>A (p.Arg324Gln)	PDE8B (R200Q +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 354156	NM_003719.5(PDE8B):c.999A>G (p.Thr333=)	PDE8B	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance
Select item 903931	NM_003719.5(PDE8B):c.1001G>A (p.Cys334Tyr)	PDE8B (C210Y +8 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant striatal neurodegeneration type 1	GUncertain significance

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