5626[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	See cases	GPathogenic
Select item 58122	GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3	FAM153A, FAM153B +176 more	Copy number gain	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 154297	GRCh38/hg38 5q35.2-35.3(chr5:175989092-178009412)x1	ARL10, B4GALT7 +145 more	Copy number loss	See cases	GPathogenic
Select item 59300	GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1	ARL10, B4GALT7 +145 more	Copy number loss	See cases	GPathogenic
Select item 154443	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177995759)x1	ARL10, B4GALT7 +142 more	Copy number loss	See cases	GPathogenic
Select item 155396	GRCh38/hg38 5q35.2-35.3(chr5:176143674-178009412)x1	ARL10, B4GALT7 +141 more	Copy number loss	See cases	GPathogenic
Select item 153772	GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1	ARL10, B4GALT7 +172 more	Copy number loss	See cases	GPathogenic
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	ADAMTS2, B4GALT7 +325 more	Copy number loss	See cases	GPathogenic
Select item 353007	NM_006261.5(PROP1):c.*468C>T	PROP1	Single nucleotide variant (3 prime UTR variant)	Pituitary hormone deficiency, combined, 2	GUncertain significance
Select item 906954	NM_006261.5(PROP1):c.*434T>A	PROP1	Single nucleotide variant (3 prime UTR variant)	Pituitary hormone deficiency, combined, 2	GUncertain significance
Select item 353008	NM_006261.5(PROP1):c.*419C>T	PROP1	Single nucleotide variant (3 prime UTR variant)	Pituitary hormone deficiency, combined, 2	GBenign
Select item 353009	NM_006261.5(PROP1):c.*354G>A	PROP1	Single nucleotide variant (3 prime UTR variant)	Pituitary hormone deficiency, combined, 2	GBenign
Select item 353010	NM_006261.5(PROP1):c.*123T>C	PROP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1810604	NM_006261.5(PROP1):c.*120C>T	PROP1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 353011	NM_006261.5(PROP1):c.*52G>A	PROP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 906955	NM_006261.5(PROP1):c.*37C>T	PROP1	Single nucleotide variant (3 prime UTR variant)	Pituitary hormone deficiency, combined, 2	GUncertain significance
Select item 2148161	NM_006261.5(PROP1):c.671C>G (p.Ser224Cys)	PROP1 (S224C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 552012	NM_006261.5(PROP1):c.652dup (p.Ser218fs)	PROP1 (S218fs)	Duplication (frameshift variant)	Pituitary hormone deficiency, combined, 2	GUncertain significance
Select item 1606365	NM_006261.5(PROP1):c.645C>A (p.Leu215=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1647889	NM_006261.5(PROP1):c.636T>A (p.Pro212=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1587740	NM_006261.5(PROP1):c.636T>G (p.Pro212=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 284436	NM_006261.5(PROP1):c.636T>C (p.Pro212=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1393557	NM_006261.5(PROP1):c.633C>T (p.Pro211=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3047433	NM_006261.5(PROP1):c.632C>A (p.Pro211His)	PROP1 (P211H)	Single nucleotide variant (missense variant)	PROP1-related disorder	GUncertain significance
Select item 2860293	NM_006261.5(PROP1):c.630A>G (p.Pro210=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 557462	NM_006261.5(PROP1):c.629dup (p.Pro211fs)	PROP1 (P211fs)	Duplication (frameshift variant)	Pituitary hormone deficiency, combined, 2	GConflicting classifications of pathogenicity
Select item 287515	NM_006261.5(PROP1):c.630A>C (p.Pro210=)	PROP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1523184	NM_006261.5(PROP1):c.629del (p.Pro210fs)	PROP1 (P210fs)	Deletion (frameshift variant)	Pituitary hormone deficiency, combined, 2 +1 more	GLikely pathogenic
Select item 1138842	NM_006261.5(PROP1):c.627C>T (p.Pro209=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 763081	NM_006261.5(PROP1):c.624C>T (p.Cys208=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 353012	NM_006261.5(PROP1):c.623dup (p.Cys208fs)	PROP1 (C208fs)	Duplication (frameshift variant)	Pituitary hormone deficiency, combined, 2	GUncertain significance
Select item 1133833	NM_006261.5(PROP1):c.618G>T (p.Leu206=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 353013	NM_006261.5(PROP1):c.618G>A (p.Leu206=)	PROP1	Single nucleotide variant (synonymous variant)	Pituitary hormone deficiency, combined, 2 +1 more	GConflicting classifications of pathogenicity
Select item 557824	NM_006261.5(PROP1):c.611del (p.Gly204fs)	PROP1 (G204fs)	Deletion (frameshift variant)	Pituitary hormone deficiency, combined, 2	GConflicting classifications of pathogenicity
Select item 2186127	NM_006261.5(PROP1):c.609C>A (p.Ala203=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 792232	NM_006261.5(PROP1):c.609C>T (p.Ala203=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1647638	NM_006261.5(PROP1):c.600A>C (p.Pro200=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1535428	NM_006261.5(PROP1):c.594G>A (p.Leu198=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 286901	NM_006261.5(PROP1):c.592T>C (p.Leu198=)	PROP1	Single nucleotide variant (synonymous variant)	Pituitary hormone deficiency, combined, 2 +1 more	GConflicting classifications of pathogenicity
Select item 2140676	NM_006261.5(PROP1):c.591C>A (p.Thr197=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1922960	NM_006261.5(PROP1):c.591C>T (p.Thr197=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1431103	NM_006261.5(PROP1):c.583del (p.Tyr195fs)	PROP1 (Y195fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 8107	NM_006261.5(PROP1):c.582G>A (p.Trp194Ter)	PROP1 (W194*)	Single nucleotide variant (nonsense)	Pituitary hormone deficiency, combined, 2	GPathogenic/Likely pathogenic
Select item 2752750	NM_006261.5(PROP1):c.581G>A (p.Trp194Ter)	PROP1 (W194*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2804795	NM_006261.5(PROP1):c.573T>C (p.Ser191=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2678072	NM_006261.5(PROP1):c.568C>T (p.Gln190Ter)	PROP1 (Q190*)	Single nucleotide variant (nonsense)	Pituitary hormone deficiency, combined, 2	GLikely pathogenic
Select item 2371376	NM_006261.5(PROP1):c.557C>T (p.Ala186Val)	PROP1 (A186V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 371561	NM_006261.5(PROP1):c.557del (p.Ala186fs)	PROP1 (A186fs)	Deletion (frameshift variant)	Pituitary hormone deficiency, combined, 2 +1 more	GPathogenic/Likely pathogenic
Select item 2153149	NM_006261.5(PROP1):c.550G>A (p.Ala184Thr)	PROP1 (A184T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 287105	NM_006261.5(PROP1):c.550G>C (p.Ala184Pro)	PROP1 (A184P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2694770	NM_006261.5(PROP1):c.549C>A (p.Gly183=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3240209	NM_006261.5(PROP1):c.546del (p.Gly183fs)	PROP1 (G183fs)	Deletion (frameshift variant)	Pituitary hormone deficiency, combined, 2	GLikely pathogenic
Select item 754632	NM_006261.5(PROP1):c.540C>T (p.Ser180=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732957	NM_006261.5(PROP1):c.534G>A (p.Gln178=)	PROP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2838915	NM_006261.5(PROP1):c.522C>T (p.Ala174=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1540790	NM_006261.5(PROP1):c.516C>T (p.Ser172=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1088810	NM_006261.5(PROP1):c.513C>T (p.Tyr171=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1114057	NM_006261.5(PROP1):c.501C>T (p.Phe167=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812497	NM_006261.5(PROP1):c.495C>G (p.Thr165=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2195372	NM_006261.5(PROP1):c.488C>A (p.Pro163Gln)	PROP1 (P163Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2232090	NM_006261.5(PROP1):c.472GCA[3] (p.Ala159_Pro160insAla)	PROP1	Microsatellite (inframe_insertion)	Inborn genetic diseases	GUncertain significance
Select item 2135043	NM_006261.5(PROP1):c.477A>G (p.Ala159=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2709152	NM_006261.5(PROP1):c.474A>T (p.Ala158=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1323498	NM_006261.5(PROP1):c.471C>G (p.Tyr157Ter)	PROP1 (Y157*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 286283	NM_006261.5(PROP1):c.471C>T (p.Tyr157=)	PROP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2127143	NM_006261.5(PROP1):c.463del (p.Tyr155fs)	PROP1 (Y155fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2758219	NM_006261.5(PROP1):c.462C>G (p.Pro154=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2031366	NM_006261.5(PROP1):c.459C>T (p.Cys153=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 196433	NM_006261.5(PROP1):c.456T>C (p.Ala152=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 3219054	NM_006261.5(PROP1):c.433A>G (p.Ser145Gly)	PROP1 (S145G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3017815	NM_006261.5(PROP1):c.426C>A (p.Ala142=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873133	NM_006261.5(PROP1):c.426C>T (p.Ala142=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 196432	NM_006261.5(PROP1):c.425C>T (p.Ala142Val)	PROP1 (A142V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 196434	NM_006261.5(PROP1):c.424G>A (p.Ala142Thr)	PROP1 (A142T)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 2 +2 more	GBenign
Select item 286282	NM_006261.5(PROP1):c.423C>T (p.Ala141=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1109072	NM_006261.5(PROP1):c.414G>A (p.Leu138=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075327	NM_006261.5(PROP1):c.411T>C (p.His137=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796389	NM_006261.5(PROP1):c.408C>A (p.Ala136=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3219053	NM_006261.5(PROP1):c.403C>G (p.Leu135Val)	PROP1 (L135V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3240210	NM_006261.5(PROP1):c.397C>T (p.Gln133Ter)	PROP1 (Q133*)	Single nucleotide variant (nonsense)	Pituitary hormone deficiency, combined, 2	GLikely pathogenic
Select item 2769425	NM_006261.5(PROP1):c.396T>C (p.Leu132=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1153695	NM_006261.5(PROP1):c.393G>A (p.Leu131=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 795376	NM_006261.5(PROP1):c.391C>T (p.Leu131=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 371125	NM_006261.5(PROP1):c.390_391del (p.Leu131fs)	PROP1 (L131fs)	Deletion (frameshift variant)	Pituitary hormone deficiency, combined, 2	GLikely pathogenic
Select item 2009377	NM_006261.5(PROP1):c.390A>C (p.Ser130=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1157740	NM_006261.5(PROP1):c.390A>G (p.Ser130=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 557236	NM_006261.5(PROP1):c.386_387dup (p.Ser130fs)	PROP1 (S130fs)	Microsatellite (frameshift variant)	Pituitary hormone deficiency, combined, 2 +1 more	GPathogenic/Likely pathogenic
Select item 764481	NM_006261.5(PROP1):c.385C>T (p.Arg129Cys)	PROP1 (R129C)	Single nucleotide variant (missense variant)	PROP1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1529074	NM_006261.5(PROP1):c.384G>A (p.Glu128=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 552692	NM_006261.5(PROP1):c.373C>T (p.Arg125Trp)	PROP1 (R125W)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 2 +1 more	GConflicting classifications of pathogenicity
Select item 36701	NM_006261.5(PROP1):c.359G>A (p.Arg120His)	PROP1 (R120H)	Single nucleotide variant (missense variant)	Combined pituitary hormone deficiencies, genetic form +2 more	GConflicting classifications of pathogenicity
Select item 8095	NM_006261.5(PROP1):c.358C>T (p.Arg120Cys)	PROP1 (R120C)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 2 +1 more	GPathogenic/Likely pathogenic
Select item 2908225	NM_006261.5(PROP1):c.357C>T (p.Asn119=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2033284	NM_006261.5(PROP1):c.354G>A (p.Gln118=)	PROP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1454453	NM_006261.5(PROP1):c.352C>T (p.Gln118Ter)	PROP1 (Q118*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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