4860[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 59933	GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3	ANG, APEX1 +119 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 881626	NM_000270.3(PNP):c.-150G>A	PNP	Single nucleotide variant	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 881627	NM_000270.3(PNP):c.-129C>A	PNP	Single nucleotide variant	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 312724	NM_000270.4(PNP):c.-96G>A	PNP	Single nucleotide variant (5 prime UTR variant)	Purine-nucleoside phosphorylase deficiency	GBenign
Select item 312725	NM_000270.4(PNP):c.-91G>T	PNP	Single nucleotide variant (5 prime UTR variant)	Purine-nucleoside phosphorylase deficiency	GBenign
Select item 312726	NM_000270.4(PNP):c.-83C>G	PNP	Single nucleotide variant (5 prime UTR variant)	Purine-nucleoside phosphorylase deficiency	GBenign
Select item 1006121	NM_000270.4(PNP):c.4G>C (p.Glu2Gln)	PNP (E2Q)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 459611	NM_000270.4(PNP):c.10G>C (p.Gly4Arg)	PNP (G4R)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 2862345	NM_000270.4(PNP):c.11+2T>A	PNP	Single nucleotide variant (splice donor variant)	Purine-nucleoside phosphorylase deficiency	GLikely pathogenic
Select item 1348177	NM_000270.4(PNP):c.11+3G>A	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 312727	NM_000270.4(PNP):c.11+5G>T	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 2154086	NM_000270.4(PNP):c.11+11C>T	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1609656	NM_000270.4(PNP):c.11+13C>A	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1896734	NM_000270.4(PNP):c.11+15A>G	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2776066	NM_000270.4(PNP):c.11+17_11+25del	PNP	Deletion (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2771821	NM_000270.4(PNP):c.11+18C>T	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 138728	NM_000270.4(PNP):c.12-18A>T	PNP	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1672667	NM_000270.4(PNP):c.12-10del	PNP	Deletion (intron variant)	Purine-nucleoside phosphorylase deficiency	GBenign
Select item 529208	NM_000270.4(PNP):c.12-9C>A	PNP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2425415	NM_000270.4(PNP):c.12-8T>A	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2743855	NM_000270.4(PNP):c.12-3del	PNP	Deletion (intron variant)	Purine-nucleoside phosphorylase deficiency	GBenign
Select item 882786	NM_000270.4(PNP):c.12-7C>A	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 1123003	NM_000270.4(PNP):c.12-6C>T	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1324943	NM_000270.4(PNP):c.12-1G>C	PNP	Single nucleotide variant (splice acceptor variant)	Purine-nucleoside phosphorylase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1370071	NM_000270.4(PNP):c.13T>C (p.Tyr5His)	PNP (Y5H)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 2092670	NM_000270.4(PNP):c.15C>T (p.Tyr5=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 572933	NM_000270.4(PNP):c.16A>C (p.Thr6Pro)	PNP (T6P)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 1444212	NM_000270.4(PNP):c.29A>G (p.Tyr10Cys)	PNP (Y10C)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 2139972	NM_000270.4(PNP):c.36C>T (p.Asn12=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 964110	NM_000270.4(PNP):c.49C>T (p.Leu17Phe)	PNP (L17F)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 2851192	NM_000270.4(PNP):c.54G>A (p.Leu18=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1367694	NM_000270.4(PNP):c.58C>T (p.His20Tyr)	PNP (H20Y)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 501882	NM_000270.4(PNP):c.60C>A (p.His20Gln)	PNP (H20Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138729	NM_000270.4(PNP):c.60C>T (p.His20=)	PNP	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 312728	NM_000270.4(PNP):c.66G>C (p.Lys22Asn)	PNP (K22N)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 13995	NM_000270.4(PNP):c.70C>T (p.Arg24Ter)	PNP (R24*)	Single nucleotide variant (nonsense)	Purine-nucleoside phosphorylase deficiency	GPathogenic
Select item 644257	NM_000270.4(PNP):c.78A>G (p.Gln26=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 1950302	NM_000270.4(PNP):c.79G>A (p.Val27Ile)	PNP (V27I)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 3064932	NM_000270.4(PNP):c.83C>T (p.Ala28Val)	PNP (A28V)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GLikely pathogenic
Select item 1926676	NM_000270.4(PNP):c.87A>G (p.Ile29Met)	PNP (I29M)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 2500721	NM_000270.4(PNP):c.97T>C (p.Ser33Pro)	PNP (S33P)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GLikely pathogenic
Select item 1398460	NM_000270.4(PNP):c.147C>G (p.Asp49Glu)	PNP (D49E)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 1942995	NM_000270.4(PNP):c.150C>T (p.Tyr50=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 13992	NM_000270.4(PNP):c.151G>A (p.Gly51Ser)	PNP (G51S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1619771	NM_000270.4(PNP):c.153T>C (p.Gly51=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 312729	NM_000270.4(PNP):c.159C>A (p.Ile53=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GConflicting classifications of pathogenicity
Select item 2160364	NM_000270.4(PNP):c.164A>G (p.Asn55Ser)	PNP (N55S)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 1071551	NM_000270.4(PNP):c.171_172delinsTT (p.Arg58Ter)	PNP (R58*)	Indel (nonsense)	Purine-nucleoside phosphorylase deficiency	GPathogenic
Select item 138730	NM_000270.4(PNP):c.171C>T (p.Pro57=)	PNP	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 13996	NM_000270.4(PNP):c.172C>T (p.Arg58Ter)	PNP (R58*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1393427	NM_000270.4(PNP):c.173G>A (p.Arg58Gln)	PNP (R58Q)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 2129089	NM_000270.4(PNP):c.179C>T (p.Thr60Ile)	PNP (T60I)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 1913327	NM_000270.4(PNP):c.180A>G (p.Thr60=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 861659	NM_000270.4(PNP):c.181G>T (p.Val61Leu)	PNP (V61L)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GLikely pathogenic
Select item 1657869	NM_000270.4(PNP):c.181+8C>G	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2180775	NM_000270.4(PNP):c.181+16A>T	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2885035	NM_000270.4(PNP):c.181+17G>A	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2164912	NM_000270.4(PNP):c.182-17_182-14del	PNP	Deletion (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1998104	NM_000270.4(PNP):c.182-19C>T	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2901877	NM_000270.4(PNP):c.182-10T>G	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2830032	NM_000270.4(PNP):c.182-6A>G	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 2178845	NM_000270.4(PNP):c.182-2A>G	PNP	Single nucleotide variant (splice acceptor variant)	Purine-nucleoside phosphorylase deficiency	GLikely pathogenic
Select item 1010076	NM_000270.4(PNP):c.190C>A (p.His64Asn)	PNP (H64N)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 3018851	NM_000270.4(PNP):c.199C>A (p.Arg67=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1344922	NM_000270.4(PNP):c.199C>T (p.Arg67Ter)	PNP (R67*)	Single nucleotide variant (nonsense)	Purine-nucleoside phosphorylase deficiency +1 more	GPathogenic
Select item 2913219	NM_000270.4(PNP):c.200G>A (p.Arg67Gln)	PNP (R67Q)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 2813824	NM_000270.4(PNP):c.207G>C (p.Val69=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1485857	NM_000270.4(PNP):c.222T>A (p.Asn74Lys)	PNP (N74K)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 656565	NM_000270.4(PNP):c.230C>G (p.Ala77Gly)	PNP (A77G)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 762867	NM_000270.4(PNP):c.231C>T (p.Ala77=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1721615	NM_000270.4(PNP):c.242T>C (p.Met81Thr)	PNP (M81T)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 1076064	NM_000270.4(PNP):c.244C>T (p.Gln82Ter)	PNP (Q82*)	Single nucleotide variant (nonsense)	Purine-nucleoside phosphorylase deficiency +1 more	GPathogenic
Select item 573884	NM_000270.4(PNP):c.246G>T (p.Gln82His)	PNP (Q82H)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 1360782	NM_000270.4(PNP):c.253T>C (p.Phe85Leu)	PNP (F85L)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 659780	NM_000270.4(PNP):c.260T>A (p.Met87Lys)	PNP (M87K)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GUncertain significance
Select item 1605187	NM_000270.4(PNP):c.264T>C (p.Tyr88=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 13988	NM_000270.4(PNP):c.265G>A (p.Glu89Lys)	PNP (E89K)	Single nucleotide variant (missense variant)	Purine-nucleoside phosphorylase deficiency	GConflicting classifications of pathogenicity
Select item 373674	NM_000270.4(PNP):c.268G>A (p.Gly90Arg)	PNP (G90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2108493	NM_000270.4(PNP):c.279C>G (p.Leu93=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1666512	NM_000270.4(PNP):c.279C>T (p.Leu93=)	PNP	Single nucleotide variant (synonymous variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 13997	NM_000270.4(PNP):c.285+1G>A	PNP	Single nucleotide variant (splice donor variant)	Purine-nucleoside phosphorylase deficiency	GPathogenic
Select item 2415849	NM_000270.4(PNP):c.285+8del	PNP	Deletion (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1585390	NM_000270.4(PNP):c.285+8A>G	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 312730	NM_000270.4(PNP):c.285+10A>G	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency +2 more	GBenign
Select item 1567285	NM_000270.4(PNP):c.285+15T>C	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1581745	NM_000270.4(PNP):c.285+18G>A	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1166868	NM_000270.4(PNP):c.285+19T>C	PNP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1671958	NM_000270.4(PNP):c.286-19C>T	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign
Select item 1626722	NM_000270.4(PNP):c.286-18G>C	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 505116	NM_000270.4(PNP):c.286-18G>A	PNP	Single nucleotide variant (intron variant)	Severe combined immunodeficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 736931	NM_000270.4(PNP):c.286-5C>T	PNP	Single nucleotide variant (intron variant)	Purine-nucleoside phosphorylase deficiency	GLikely benign

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