9390[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 303

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 155274	GRCh38/hg38 7p22.3(chr7:45130-1298050)x1	ADAP1, C7orf50 +102 more	Copy number loss	See cases	GUncertain significance
Select item 155108	GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3	ADAP1, AMZ1 +246 more	Copy number gain	See cases	GUncertain significance
Select item 149320	GRCh38/hg38 7p22.3(chr7:45130-821632)x1	LOC101929756, LOC105375113 +45 more	Copy number loss	See cases	GUncertain significance
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 154928	GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1	LOC126859917, LOC126859918 +245 more	Copy number loss	See cases	GPathogenic
Select item 149904	GRCh38/hg38 7p22.3(chr7:54165-725325)x1	FAM20C, FOXL3 +33 more	Copy number loss	See cases	GPathogenic
Select item 160967	GRCh38/hg38 7p22.3(chr7:54185-1843584)x1	ADAP1, C7orf50 +140 more	Copy number loss	See cases	GPathogenic
Select item 148079	GRCh38/hg38 7p22.3(chr7:54185-1331046)x1	LOC129997768, LOC132089513 +102 more	Copy number loss	See cases	GUncertain significance
Select item 147625	GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1	ADAP1, AMZ1 +246 more	Copy number loss	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 144710	GRCh38/hg38 7p22.3(chr7:54185-1206119)x3	ADAP1, C7orf50 +97 more	Copy number gain	See cases	GUncertain significance
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 58496	GRCh38/hg38 7p22.3(chr7:54185-1441125)x1	ADAP1, C7orf50 +108 more	Copy number loss	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 32434	GRCh38/hg38 7p22.3(chr7:54185-1843584)x1	ADAP1, C7orf50 +140 more	Copy number loss	See cases	GPathogenic
Select item 1526212	NM_001164760.2(PRKAR1B):c.1142T>G (p.Val381Gly)	PRKAR1B (V381G)	Single nucleotide variant (missense variant)	Marbach-Schaaf neurodevelopmental syndrome	GUncertain significance
Select item 3218741	NM_001164760.2(PRKAR1B):c.1129A>G (p.Ile377Val)	PRKAR1B (I377V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740308	NM_001164760.2(PRKAR1B):c.1095C>A (p.Ile365=)	PRKAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1210096	NM_001164760.2(PRKAR1B):c.1065C>T (p.Phe355=)	PRKAR1B	Single nucleotide variant (synonymous variant)	PRKAR1B-related disorder +1 more	GBenign
Select item 1710688	NM_001164760.2(PRKAR1B):c.1033dup (p.Leu345fs)	PRKAR1B (L345fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 730568	NM_001164760.2(PRKAR1B):c.1017C>T (p.Val339=)	PRKAR1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2409689	NM_001164760.2(PRKAR1B):c.1015G>A (p.Val339Ile)	PRKAR1B (V339I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1210100	NM_001164760.2(PRKAR1B):c.1014T>C (p.Thr338=)	PRKAR1B	Single nucleotide variant (synonymous variant)	PRKAR1B-related disorder +1 more	GBenign
Select item 786768	NM_001164760.2(PRKAR1B):c.1008G>A (p.Ala336=)	PRKAR1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2068024	NM_001164760.2(PRKAR1B):c.1004G>A (p.Arg335Gln)	PRKAR1B (R335Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1172535	NM_001164760.2(PRKAR1B):c.1003C>T (p.Arg335Trp)	PRKAR1B (R335W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3057463	NM_001164760.2(PRKAR1B):c.998G>A (p.Arg333Gln)	PRKAR1B (R333Q)	Single nucleotide variant (missense variant)	PRKAR1B-related disorder	GLikely benign
Select item 1210095	NM_001164760.2(PRKAR1B):c.984A>G (p.Ala328=)	PRKAR1B	Single nucleotide variant (synonymous variant)	PRKAR1B-related disorder +1 more	GBenign
Select item 2501851	NM_001164760.2(PRKAR1B):c.974-5C>G	PRKAR1B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1209930	NM_001164760.2(PRKAR1B):c.974-8A>C	PRKAR1B	Single nucleotide variant (intron variant)	PRKAR1B-related disorder +1 more	GBenign
Select item 787312	NM_001164760.2(PRKAR1B):c.972C>T (p.Phe324=)	PRKAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2630642	NM_001164760.2(PRKAR1B):c.943G>A (p.Val315Met)	PRKAR1B (V315M)	Single nucleotide variant (missense variant)	PRKAR1B-related disorder	GUncertain significance
Select item 2594322	NM_001164760.2(PRKAR1B):c.937G>A (p.Val313Met)	PRKAR1B (V313M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782256	NM_001164760.2(PRKAR1B):c.936C>T (p.Tyr312=)	PRKAR1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 791569	NM_001164760.2(PRKAR1B):c.933G>A (p.Glu311=)	PRKAR1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3349891	NM_001164760.2(PRKAR1B):c.926A>C (p.Asn309Thr)	PRKAR1B (N309T)	Single nucleotide variant (missense variant)	PRKAR1B-related disorder	GLikely pathogenic
Select item 2444586	NM_001164760.2(PRKAR1B):c.917G>A (p.Arg306Gln)	PRKAR1B (R306Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2398733	NM_001164760.2(PRKAR1B):c.914G>A (p.Arg305His)	PRKAR1B (R305H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067879	NM_001164760.2(PRKAR1B):c.913C>T (p.Arg305Cys)	PRKAR1B (R305C)	Single nucleotide variant (missense variant)	Marbach-Schaaf neurodevelopmental syndrome	GUncertain significance
Select item 3344452	NM_001164760.2(PRKAR1B):c.904G>A (p.Val302Met)	PRKAR1B (V302M)	Single nucleotide variant (missense variant)	PRKAR1B-related disorder	GUncertain significance
Select item 719391	NM_001164760.2(PRKAR1B):c.903C>T (p.Ser301=)	PRKAR1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716001	NM_001164760.2(PRKAR1B):c.897C>T (p.Thr299=)	PRKAR1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2473336	NM_001164760.2(PRKAR1B):c.895A>G (p.Thr299Ala)	PRKAR1B (T299A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1210049	NM_001164760.2(PRKAR1B):c.892-18G>C	PRKAR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 765620	NM_001164760.2(PRKAR1B):c.891+7C>T	PRKAR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209884	NM_001164760.2(PRKAR1B):c.846T>C (p.Ile282=)	PRKAR1B	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 3218745	NM_001164760.2(PRKAR1B):c.844A>G (p.Ile282Val)	PRKAR1B (I282V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730203	NM_001164760.2(PRKAR1B):c.819C>T (p.Pro273=)	PRKAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726501	NM_001164760.2(PRKAR1B):c.810G>A (p.Ala270=)	PRKAR1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1684301	NM_001164760.2(PRKAR1B):c.809C>T (p.Ala270Val)	PRKAR1B (A270V)	Single nucleotide variant (missense variant)	Marbach-Schaaf neurodevelopmental syndrome	GUncertain significance
Select item 2277864	NM_001164760.2(PRKAR1B):c.808G>A (p.Ala270Thr)	PRKAR1B (A270T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309973	NM_001164760.2(PRKAR1B):c.791G>A (p.Arg264His)	PRKAR1B (R264H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334320	NM_001164760.2(PRKAR1B):c.790C>T (p.Arg264Cys)	PRKAR1B (R264C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3349888	NM_001164760.2(PRKAR1B):c.735G>A (p.Met245Ile)	PRKAR1B (M245I)	Single nucleotide variant (missense variant)	PRKAR1B-related disorder	GUncertain significance
Select item 3239429	NM_001164760.2(PRKAR1B):c.728G>A (p.Arg243His)	PRKAR1B (R243H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3066190	NC_000007.14:g.584568_584569del	PRKAR1B	Deletion	Marbach-Schaaf neurodevelopmental syndrome	GUncertain significance
Select item 716872	NM_001164760.2(PRKAR1B):c.709-6G>A	PRKAR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209959	NM_001164760.2(PRKAR1B):c.709-16A>C	PRKAR1B	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1209983	NM_001164760.2(PRKAR1B):c.708+6T>C	PRKAR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2508601	NM_001164760.2(PRKAR1B):c.667C>G (p.Leu223Val)	PRKAR1B (L223V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723384	NM_001164760.2(PRKAR1B):c.657G>A (p.Thr219=)	PRKAR1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 788669	NM_001164760.2(PRKAR1B):c.642C>T (p.Thr214=)	PRKAR1B	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2497761	NM_001164760.2(PRKAR1B):c.622G>A (p.Gly208Ser)	PRKAR1B (G208S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329088	NM_001164760.2(PRKAR1B):c.586G>A (p.Glu196Lys)	PRKAR1B	Single nucleotide variant (missense variant)	Marbach-Schaaf neurodevelopmental syndrome	GConflicting classifications of pathogenicity
Select item 1802230	NM_001164760.2(PRKAR1B):c.570G>A (p.Trp190Ter)	PRKAR1B (W190*)	Single nucleotide variant (nonsense)	Marbach-Schaaf neurodevelopmental syndrome	GLikely pathogenic
Select item 2277923	NM_001164760.2(PRKAR1B):c.556G>T (p.Val186Leu)	PRKAR1B (V186L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335998	NM_001164760.2(PRKAR1B):c.549+3647G>A	PRKAR1B	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 444708	NM_001164760.2(PRKAR1B):c.537A>G (p.Gln179=)	PRKAR1B-AS1, PRKAR1B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3050103	NM_001164760.2(PRKAR1B):c.528C>T (p.Val176=)	PRKAR1B, PRKAR1B-AS1	Single nucleotide variant (synonymous variant)	PRKAR1B-related disorder	GLikely benign
Select item 2572367	NM_001164760.2(PRKAR1B):c.522C>G (p.Phe174Leu)	PRKAR1B, PRKAR1B-AS1 (F174L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430509	NM_001164760.2(PRKAR1B):c.522C>A (p.Phe174Leu)	PRKAR1B, PRKAR1B-AS1 (F174L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329089	NM_001164760.2(PRKAR1B):c.500_501inv (p.Gln167Leu)	PRKAR1B, PRKAR1B-AS1	Inversion (missense variant)	Marbach-Schaaf neurodevelopmental syndrome	GPathogenic
Select item 2312310	NM_001164760.2(PRKAR1B):c.478G>A (p.Ala160Thr)	PRKAR1B, PRKAR1B-AS1 (A160T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3343467	NM_001164760.2(PRKAR1B):c.470C>T (p.Thr157Ile)	PRKAR1B, PRKAR1B-AS1 (T157I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 759832	NM_001164760.2(PRKAR1B):c.415G>T (p.Ala139Ser)	PRKAR1B (A139S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 793550	NM_001164760.2(PRKAR1B):c.339C>T (p.Tyr113=)	PRKAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2338993	NM_001164760.2(PRKAR1B):c.295G>A (p.Gly99Ser)	PRKAR1B (G99S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309974	NM_001164760.2(PRKAR1B):c.284G>A (p.Arg95His)	PRKAR1B (R95H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1698130	NM_001164760.2(PRKAR1B):c.274A>G (p.Lys92Glu)	PRKAR1B (K92E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 726635	NM_001164760.2(PRKAR1B):c.267T>G (p.Pro89=)	PRKAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 795849	NM_001164760.2(PRKAR1B):c.261G>C (p.Pro87=)	PRKAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3309978	NM_001164760.2(PRKAR1B):c.259C>A (p.Pro87Thr)	PRKAR1B (P87T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218743	NM_001164760.2(PRKAR1B):c.259C>G (p.Pro87Ala)	PRKAR1B (P87A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 794456	NM_001164760.2(PRKAR1B):c.258C>A (p.Pro86=)	PRKAR1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 425405	NM_001164760.2(PRKAR1B):c.254C>G (p.Thr85Ser)	PRKAR1B (T85S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2408172	NM_001164760.2(PRKAR1B):c.251C>T (p.Pro84Leu)	PRKAR1B (P84L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309972	NM_001164760.2(PRKAR1B):c.248C>T (p.Ser83Leu)	PRKAR1B (S83L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456597	NM_001164760.2(PRKAR1B):c.215A>G (p.Asn72Ser)	PRKAR1B (N72S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309976	NM_001164760.2(PRKAR1B):c.203G>A (p.Arg68Gln)	PRKAR1B (R68Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3309977	NM_001164760.2(PRKAR1B):c.202C>T (p.Arg68Trp)	PRKAR1B (R68W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067402	NM_001164760.2(PRKAR1B):c.186C>T (p.Asn62=)	PRKAR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2507154	NM_001164760.2(PRKAR1B):c.181G>A (p.Glu61Lys)	PRKAR1B (E61K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 733658	NM_001164760.2(PRKAR1B):c.178-3C>T	PRKAR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 152911	GRCh38/hg38 7p22.3(chr7:689554-854872)x3	DNAAF5, LOC123924885 +15 more	Copy number gain	See cases	GUncertain significance

<< First< Prev

Page of 4