137492[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC129999940, LOC129999941 +687 more	Copy number gain	See cases	GPathogenic
Select item 59739	GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3	LOC101929290, LOC102723313 +471 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	LOC129999950, LOC129999951 +736 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	XKR5, XKR6 +773 more	Copy number loss	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC126860319, LOC126860320 +696 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	GPathogenic
Select item 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC132089588, LOC132089589 +510 more	Copy number loss	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000241, LOC130000242 +934 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	ADAM28, ADAM7 +665 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000074, LOC130000075 +929 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	TNFRSF10A, TNFRSF10A-DT +705 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +870 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	LOC128772328, LOC129389957 +653 more	Copy number gain	See cases	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 147664	GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	ADAM28, ADAM7 +567 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788272, LOC113788273 +807 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC130000012, LOC130000013 +857 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000050, LOC130000051 +791 more	Copy number gain	See cases	GPathogenic
Select item 145968	GRCh38/hg38 8p23.1-21.3(chr8:12732530-20436882)x3	ASAH1, ASAH1-AS1 +144 more	Copy number gain	See cases	GPathogenic
Select item 59767	GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	ADAM28, ADAM7 +523 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59768	GRCh38/hg38 8p23.1-21.3(chr8:12787272-20952389)x3	ASAH1, ASAH1-AS1 +140 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 1219001	NC_000008.11:g.17246633C>G	CNOT7, VPS37A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671125	NM_152415.2(VPS37A):c.-566G>A	CNOT7, VPS37A	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 680365	NM_152415.3(VPS37A):c.-31C>T	VPS37A	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 288702	NM_152415.3(VPS37A):c.-19G>A	VPS37A	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign/Likely benign
Select item 668283	NM_152415.3(VPS37A):c.-13G>A	VPS37A	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 696459	NM_152415.3(VPS37A):c.24C>T (p.Thr8=)	VPS37A	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1908094	NM_152415.3(VPS37A):c.31G>T (p.Ala11Ser)	VPS37A (A11S)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2180040	NM_152415.3(VPS37A):c.32C>G (p.Ala11Gly)	VPS37A (A11G)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 502167	NM_152415.3(VPS37A):c.61G>A (p.Gly21Ser)	VPS37A (G21S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 734676	NM_152415.3(VPS37A):c.72C>T (p.Ser24=)	VPS37A	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2694979	NM_152415.3(VPS37A):c.75C>G (p.Leu25=)	VPS37A	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2527703	NM_152415.3(VPS37A):c.77A>C (p.Gln26Pro)	VPS37A (Q26P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1344179	NM_152415.3(VPS37A):c.96G>T (p.Leu32=)	VPS37A	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 540285	NM_152415.3(VPS37A):c.96G>C (p.Leu32=)	VPS37A	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 53	GLikely benign
Select item 500376	NM_152415.3(VPS37A):c.99C>A (p.Ile33=)	VPS37A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 509802	NM_152415.3(VPS37A):c.125+8G>A	VPS37A	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 2918221	NM_152415.3(VPS37A):c.125+11_125+15del	VPS37A	Deletion (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2414195	NM_152415.3(VPS37A):c.125+15C>T	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 1205684	NM_152415.3(VPS37A):c.125+41T>G	VPS37A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214042	NM_152415.3(VPS37A):c.125+45A>G	VPS37A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194269	NM_152415.3(VPS37A):c.125+49C>G	VPS37A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2415747	NM_152415.3(VPS37A):c.126-16A>C	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 1905858	NM_152415.3(VPS37A):c.126-14A>C	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2117026	NM_152415.3(VPS37A):c.126-1G>C	VPS37A	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2072400	NM_152415.3(VPS37A):c.157A>C (p.Arg53=)	VPS37A	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2989399	NM_152415.3(VPS37A):c.159A>G (p.Arg53=)	VPS37A	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 53	GLikely benign
Select item 1143174	NM_152415.3(VPS37A):c.162G>A (p.Leu54=)	VPS37A	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2726718	NM_152415.3(VPS37A):c.163C>A (p.Pro55Thr)	VPS37A (P55T)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 3188928	NM_152415.3(VPS37A):c.172A>G (p.Ile58Val)	VPS37A (I58V)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3042315	NM_152415.3(VPS37A):c.174A>T (p.Ile58=)	VPS37A	Single nucleotide variant (synonymous variant +2 more)	VPS37A-related disorder	GLikely benign
Select item 3332249	NM_152415.3(VPS37A):c.187A>G (p.Ile63Val)	VPS37A (I63V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 669967	NM_152415.3(VPS37A):c.200+257A>T	VPS37A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669973	NM_152415.3(VPS37A):c.200+275A>T	VPS37A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296211	NM_152415.3(VPS37A):c.201-189T>C	VPS37A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295617	NM_152415.3(VPS37A):c.201-120G>A	VPS37A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188235	NM_152415.3(VPS37A):c.201-57A>G	VPS37A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990185	NM_152415.3(VPS37A):c.201-10C>T	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 730795	NM_152415.3(VPS37A):c.201-6T>C	VPS37A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 196580	NM_152415.3(VPS37A):c.202T>C (p.Leu68=)	VPS37A	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 2166324	NM_152415.3(VPS37A):c.215A>G (p.Gln72Arg)	VPS37A (Q72R +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 1029198	NM_152415.3(VPS37A):c.215A>T (p.Gln72Leu)	VPS37A (Q47L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2822973	NM_152415.3(VPS37A):c.258A>G (p.Ile86Met)	VPS37A (I86M +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 1971245	NM_152415.3(VPS37A):c.261A>G (p.Arg87=)	VPS37A	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 53	GLikely benign
Select item 863407	NM_152415.3(VPS37A):c.296C>A (p.Thr99Asn)	VPS37A (T74N +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 696358	NM_152415.3(VPS37A):c.297C>G (p.Thr99=)	VPS37A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 1637746	NM_152415.3(VPS37A):c.303A>G (p.Pro101=)	VPS37A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 1949591	NM_152415.3(VPS37A):c.315+11G>A	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 510560	NM_152415.3(VPS37A):c.315+14A>C	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53 +1 more	GBenign/Likely benign
Select item 672301	NM_152415.3(VPS37A):c.315+76G>C	VPS37A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670265	NM_152415.3(VPS37A):c.316-143A>G	VPS37A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2194614	NM_152415.3(VPS37A):c.316-19C>T	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 380929	NM_152415.3(VPS37A):c.316-17T>C	VPS37A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 3332252	NM_152415.3(VPS37A):c.340A>C (p.Lys114Gln)	VPS37A (K114Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1302484	NM_152415.3(VPS37A):c.355C>G (p.Leu119Val)	VPS37A (L119V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 658146	NM_152415.3(VPS37A):c.361G>A (p.Asp121Asn)	VPS37A (D31N +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 1344172	NM_152415.3(VPS37A):c.398C>G (p.Thr133Ser)	VPS37A (T108S +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 2062391	NM_152415.3(VPS37A):c.404C>T (p.Thr135Ile)	VPS37A (T135I +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2603254	NM_152415.3(VPS37A):c.406G>A (p.Ala136Thr)	VPS37A (A136T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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