11311[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 57468	GRCh38/hg38 1q21.2(chr1:150034379-150414215)x1	ANP32E, APH1A +35 more	Copy number loss	See cases	GUncertain significance
Select item 1259623	NC_000001.11:g.150066990G>A	LOC129931386, OTUD7B +1 more	Single nucleotide variant	not provided	GBenign
Select item 1231785	NC_000001.11:g.150067150C>A	LOC129931386, OTUD7B +1 more	Single nucleotide variant	not provided	GBenign
Select item 1241620	NC_000001.11:g.150067210=	OTUD7B, VPS45	Single nucleotide variant	not provided	GBenign
Select item 1231161	NC_000001.11:g.150067240T>C	OTUD7B, VPS45	Single nucleotide variant	not provided	GBenign
Select item 1261050	NC_000001.11:g.150067346T>A	OTUD7B, VPS45	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 991390	NM_007259.5(VPS45):c.-4C>T	VPS45	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3026499	NM_007259.5(VPS45):c.-3G>T	VPS45	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 764346	NM_007259.5(VPS45):c.6C>T (p.Asn2=)	VPS45	Single nucleotide variant (5 prime UTR variant +3 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 1566366	NM_007259.5(VPS45):c.27G>A (p.Gln9=)	VPS45	Single nucleotide variant (5 prime UTR variant +3 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2787142	NM_007259.5(VPS45):c.33T>C (p.Ile11=)	VPS45	Single nucleotide variant (5 prime UTR variant +3 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 1506686	NM_007259.5(VPS45):c.38A>G (p.Lys13Arg)	VPS45 (K13R)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1118708	NM_007259.5(VPS45):c.48G>A (p.Glu16=)	VPS45	Single nucleotide variant (5 prime UTR variant +3 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2188176	NM_007259.5(VPS45):c.57G>A (p.Gly19=)	VPS45	Single nucleotide variant (5 prime UTR variant +3 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2075629	NM_007259.5(VPS45):c.58C>T (p.Pro20Ser)	VPS45 (P20S)	Single nucleotide variant (5 prime UTR variant +3 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GUncertain significance
Select item 1163155	NM_007259.5(VPS45):c.62G>A (p.Gly21Asp)	VPS45 (G21D)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 972657	NM_007259.5(VPS45):c.64A>G (p.Met22Val)	VPS45 (M22V)	Single nucleotide variant (5 prime UTR variant +3 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GUncertain significance
Select item 1100922	NM_007259.5(VPS45):c.72A>G (p.Val24=)	VPS45	Single nucleotide variant (5 prime UTR variant +3 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 1002565	NM_007259.5(VPS45):c.73C>A (p.Leu25Ile)	VPS45 (L25I)	Single nucleotide variant (5 prime UTR variant +3 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GUncertain significance
Select item 1131644	NM_007259.5(VPS45):c.78C>T (p.Leu26=)	VPS45	Single nucleotide variant (5 prime UTR variant +3 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2802841	NM_007259.5(VPS45):c.87A>G (p.Lys29=)	VPS45	Single nucleotide variant (5 prime UTR variant +3 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 1475739	NM_007259.5(VPS45):c.93G>A (p.Thr31=)	VPS45	Single nucleotide variant (5 prime UTR variant +3 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GUncertain significance
Select item 2820021	NM_007259.5(VPS45):c.93+13_93+14dup	VPS45	Duplication (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2730056	NM_007259.5(VPS45):c.93+10C>G	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 1986956	NM_007259.5(VPS45):c.93+14T>C	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2914642	NM_007259.5(VPS45):c.93+16C>T	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2986579	NM_007259.5(VPS45):c.93+17T>G	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2903819	NM_007259.5(VPS45):c.93+18C>A	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 1567850	NM_007259.5(VPS45):c.93+19A>T	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2789200	NM_007259.5(VPS45):c.94-18A>T	VPS45	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2157803	NM_007259.5(VPS45):c.94-16T>C	VPS45	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 1651069	NM_007259.5(VPS45):c.94-5T>C	VPS45	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2011733	NM_007259.5(VPS45):c.96T>C (p.Thr32=)	VPS45	Single nucleotide variant (5 prime UTR variant +2 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 765467	NM_007259.5(VPS45):c.96T>G (p.Thr32=)	VPS45	Single nucleotide variant (5 prime UTR variant +2 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 1124026	NM_007259.5(VPS45):c.114A>G (p.Val38=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 1379915	NM_007259.5(VPS45):c.115T>A (p.Tyr39Asn)	VPS45 (Y39N +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GUncertain significance
Select item 1899485	NM_007259.5(VPS45):c.116A>G (p.Tyr39Cys)	VPS45 (Y3C +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GUncertain significance
Select item 1044433	NM_007259.5(VPS45):c.123A>G (p.Gln41=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GUncertain significance
Select item 541276	NM_007259.5(VPS45):c.126G>A (p.Ser42=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GBenign
Select item 2004948	NM_007259.5(VPS45):c.130A>G (p.Ile44Val)	VPS45 (I8V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GUncertain significance
Select item 1562702	NM_007259.5(VPS45):c.133C>T (p.Leu45=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 1571986	NM_007259.5(VPS45):c.135A>G (p.Leu45=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 3188976	NM_007259.5(VPS45):c.146T>C (p.Val49Ala)	VPS45 (V49A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2034388	NM_007259.5(VPS45):c.159A>G (p.Glu53=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 1937334	NM_007259.5(VPS45):c.160C>T (p.Arg54Cys)	VPS45 (R18C +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GUncertain significance
Select item 659684	NM_007259.5(VPS45):c.167A>G (p.Asp56Gly)	VPS45 (D20G +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GUncertain significance
Select item 2064023	NM_007259.5(VPS45):c.168T>C (p.Asp56=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 659879	NM_007259.5(VPS45):c.170C>A (p.Ser57Tyr)	VPS45 (S21Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 991391	NM_007259.5(VPS45):c.173A>G (p.Gln58Arg)	VPS45 (Q22R +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GUncertain significance
Select item 2021503	NM_007259.5(VPS45):c.178C>A (p.Arg60=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2840287	NM_007259.5(VPS45):c.182A>C (p.Glu61Ala)	VPS45 (E61A +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GUncertain significance
Select item 1087551	NM_007259.5(VPS45):c.186C>A (p.Ile62=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 1352996	NM_007259.5(VPS45):c.187A>G (p.Met63Val)	VPS45 (M63V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GUncertain significance
Select item 2171392	NM_007259.5(VPS45):c.189G>T (p.Met63Ile)	VPS45 (M27I +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GUncertain significance
Select item 651412	NM_007259.5(VPS45):c.192A>T (p.Lys64Asn)	VPS45 (K28N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GUncertain significance
Select item 1988459	NM_007259.5(VPS45):c.194A>G (p.His65Arg)	VPS45 (H29R +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GUncertain significance
Select item 1336743	NM_007259.5(VPS45):c.200A>G (p.Lys67Arg)	VPS45 (K31R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 795198	NM_007259.5(VPS45):c.201G>A (p.Lys67=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 1649519	NM_007259.5(VPS45):c.204A>G (p.Ala68=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 730762	NM_007259.5(VPS45):c.210T>C (p.Cys70=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2918735	NM_007259.5(VPS45):c.219A>C (p.Arg73=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 1346302	NM_007259.5(VPS45):c.220C>T (p.Pro74Ser)	VPS45 (P74S +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GUncertain significance
Select item 1029151	NM_007259.5(VPS45):c.223A>G (p.Thr75Ala)	VPS45 (T39A +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GUncertain significance
Select item 2785132	NM_007259.5(VPS45):c.228+7C>A	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 1129375	NM_007259.5(VPS45):c.228+7C>T	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 1108609	NM_007259.5(VPS45):c.228+8A>G	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2119772	NM_007259.5(VPS45):c.228+12dup	VPS45	Duplication (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 1139532	NM_007259.5(VPS45):c.228+9T>C	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 3011823	NM_007259.5(VPS45):c.228+17G>A	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2739491	NM_007259.5(VPS45):c.228+19_228+22dup	VPS45	Duplication (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 1257706	NM_007259.5(VPS45):c.228+102G>A	VPS45	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289650	NM_007259.5(VPS45):c.229-94C>T	VPS45	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1592304	NM_007259.5(VPS45):c.229-19C>T	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 1610936	NM_007259.5(VPS45):c.229-10C>A	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 1170636	NM_007259.5(VPS45):c.229-5dup	VPS45	Duplication (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GBenign
Select item 1093850	NM_007259.5(VPS45):c.229-6T>C	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 1337321	NM_007259.5(VPS45):c.229G>A (p.Glu77Lys)	VPS45 (E41K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1131549	NM_007259.5(VPS45):c.234T>C (p.Asn78=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 1336562	NM_007259.5(VPS45):c.235G>A (p.Val79Met)	VPS45 (V43M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2417055	NM_007259.5(VPS45):c.239A>T (p.Asp80Val)	VPS45 (D44V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GUncertain significance
Select item 2240690	NM_007259.5(VPS45):c.239A>G (p.Asp80Gly)	VPS45 (D80G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3188977	NM_007259.5(VPS45):c.242A>G (p.Tyr81Cys)	VPS45 (Y45C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1977177	NM_007259.5(VPS45):c.246T>A (p.Ile82=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 1667410	NM_007259.5(VPS45):c.246T>C (p.Ile82=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 474244	NM_007259.5(VPS45):c.246T>G (p.Ile82Met)	VPS45 (I82M +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome +1 more	GBenign
Select item 863733	NM_007259.5(VPS45):c.257T>C (p.Leu86Pro)	VPS45 (L86P +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GUncertain significance
Select item 2712943	NM_007259.5(VPS45):c.258C>G (p.Leu86=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 1142477	NM_007259.5(VPS45):c.259C>A (p.Arg87=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 973738	NM_007259.5(VPS45):c.260G>A (p.Arg87Gln)	VPS45 (R51Q +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome +1 more	GUncertain significance
Select item 1491143	NM_007259.5(VPS45):c.269A>G (p.Lys90Arg)	VPS45 (K90R +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GUncertain significance
Select item 2766720	NM_007259.5(VPS45):c.270A>G (p.Lys90=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 1155459	NM_007259.5(VPS45):c.276T>C (p.Thr92=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 1541832	NM_007259.5(VPS45):c.285C>T (p.Phe95=)	VPS45	Single nucleotide variant (synonymous variant +1 more)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2864161	NM_007259.5(VPS45):c.289+15T>G	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2997505	NM_007259.5(VPS45):c.289+16C>T	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 2082300	NM_007259.5(VPS45):c.289+19T>C	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign
Select item 1231937	NM_007259.5(VPS45):c.289+31G>A	VPS45	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252467	NM_007259.5(VPS45):c.290-169del	VPS45	Deletion (intron variant)	not provided	GBenign
Select item 2754251	NM_007259.5(VPS45):c.290-20C>A	VPS45	Single nucleotide variant (intron variant)	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GLikely benign

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