11212[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 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 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	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 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	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 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 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 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 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 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	LOC130000135, LOC130000136 +593 more	Copy number gain	See cases	GPathogenic
Select item 147723	GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1	ADAM18, ADAM2 +288 more	Copy number loss	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	ADAM18, ADAM2 +419 more	Copy number gain	See cases	GPathogenic
Select item 57114	GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1	ADAM18, ADAM2 +276 more	Copy number loss	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 3049726	NC_000008.11:g.37762548C>T	LOC113788277, PLPBP	Single nucleotide variant (5 prime UTR variant)	PLPBP-related disorder	GBenign
Select item 1272203	NM_007198.2(PLPBP):c.-102G=	LOC113788277, PLPBP (M2V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2579047	NM_007198.4(PLPBP):c.1A>G (p.Met1Val)	LOC113788277, PLPBP (M1V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2072034	NM_007198.4(PLPBP):c.6G>A (p.Trp2Ter)	LOC113788277, PLPBP (W2* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1978121	NM_007198.4(PLPBP):c.7A>C (p.Arg3=)	LOC113788277, PLPBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2416501	NM_007198.4(PLPBP):c.8G>A (p.Arg3Lys)	LOC113788277, PLPBP (R38K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1925555	NM_007198.4(PLPBP):c.11C>T (p.Ala4Val)	LOC113788277, PLPBP (A39V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2984210	NM_007198.4(PLPBP):c.15C>T (p.Gly5=)	LOC113788277, PLPBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2072852	NM_007198.4(PLPBP):c.16A>G (p.Ser6Gly)	LOC113788277, PLPBP (S41G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2116605	NM_007198.4(PLPBP):c.18C>G (p.Ser6Arg)	LOC113788277, PLPBP (S41R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3234881	NM_007198.4(PLPBP):c.19A>G (p.Met7Val)	LOC113788277, PLPBP (M42V +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, early-onset, vitamin B6-dependent	GUncertain significance
Select item 1918828	NM_007198.4(PLPBP):c.19A>T (p.Met7Leu)	LOC113788277, PLPBP (M42L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1878666	NM_007198.4(PLPBP):c.19A>C (p.Met7Leu)	LOC113788277, PLPBP (M42L +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, early-onset, vitamin B6-dependent	GUncertain significance
Select item 3215368	NM_007198.4(PLPBP):c.35dup (p.Val13fs)	LOC113788277, PLPBP (V13fs +1 more)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2756646	NM_007198.4(PLPBP):c.33G>T (p.Leu11=)	LOC113788277, PLPBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2078825	NM_007198.4(PLPBP):c.35G>C (p.Gly12Ala)	LOC113788277, PLPBP (G47A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2697056	NM_007198.4(PLPBP):c.36A>G (p.Gly12=)	LOC113788277, PLPBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1032529	NM_007198.4(PLPBP):c.40G>C (p.Gly14Arg)	LOC113788277, PLPBP (G49R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2812236	NM_007198.4(PLPBP):c.42G>A (p.Gly14=)	LOC113788277, PLPBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2066635	NM_007198.4(PLPBP):c.47_53del (p.Ala16fs)	LOC113788277, PLPBP (A16fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2189865	NM_007198.4(PLPBP):c.44G>A (p.Cys15Tyr)	LOC113788277, PLPBP (C15Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1960692	NM_007198.4(PLPBP):c.46G>A (p.Ala16Thr)	LOC113788277, PLPBP (A16T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 729635	NM_007198.4(PLPBP):c.46G>T (p.Ala16Ser)	LOC113788277, PLPBP (A16S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 744006	NM_007198.4(PLPBP):c.49T>C (p.Leu17=)	LOC113788277, PLPBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1032530	NM_007198.4(PLPBP):c.52C>T (p.Arg18Trp)	LOC113788277, PLPBP (R18W +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, early-onset, vitamin B6-dependent	GUncertain significance
Select item 2191350	NM_007198.4(PLPBP):c.54G>T (p.Arg18=)	LOC113788277, PLPBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1973167	NM_007198.4(PLPBP):c.56C>T (p.Ala19Val)	LOC113788277, PLPBP (A19V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2023101	NM_007198.4(PLPBP):c.70G>T (p.Val24Leu)	LOC113788277, PLPBP (V24L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 445758	NM_007198.4(PLPBP):c.70G>A (p.Val24Met)	LOC113788277, PLPBP (V24M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2549751	NM_007198.4(PLPBP):c.71T>A (p.Val24Glu)	LOC113788277, PLPBP (V59E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1905741	NM_007198.4(PLPBP):c.72G>A (p.Val24=)	LOC113788277, PLPBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2093068	NM_007198.4(PLPBP):c.78G>C (p.Gln26His)	LOC113788277, PLPBP (Q26H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1213761	NM_007198.4(PLPBP):c.86C>T (p.Ala29Val)	LOC113788277, PLPBP (A29V +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, early-onset, vitamin B6-dependent	GUncertain significance
Select item 1955269	NM_007198.4(PLPBP):c.87G>T (p.Ala29=)	LOC113788277, PLPBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1805772	NM_007198.4(PLPBP):c.88C>G (p.Arg30Gly)	LOC113788277, PLPBP (R30G +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, early-onset, vitamin B6-dependent	GUncertain significance
Select item 1953206	NM_007198.4(PLPBP):c.89G>A (p.Arg30Gln)	LOC113788277, PLPBP (R30Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1996940	NM_007198.4(PLPBP):c.91C>T (p.Arg31Trp)	LOC113788277, PLPBP (R66W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2719866	NM_007198.4(PLPBP):c.93G>A (p.Arg31=)	LOC113788277, PLPBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1901252	NM_007198.4(PLPBP):c.99+12G>A	LOC113788277, PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2114842	NM_007198.4(PLPBP):c.99+13G>A	LOC113788277, PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879056	NM_007198.4(PLPBP):c.99+18G>A	LOC113788277, PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789034	NM_007198.4(PLPBP):c.99+23dup	LOC113788277, PLPBP	Duplication (intron variant)	not provided	GBenign
Select item 1940178	NM_007198.4(PLPBP):c.99+20G>A	LOC113788277, PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1936701	NM_007198.4(PLPBP):c.100-20G>A	PLPBP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1915012	NM_007198.4(PLPBP):c.100-5G>T	PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2123440	NM_007198.4(PLPBP):c.100-4G>T	PLPBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988987	NM_007198.4(PLPBP):c.111C>T (p.Ala37=)	PLPBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2603428	NM_007198.4(PLPBP):c.112A>T (p.Ile38Phe)	PLPBP (I73F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2702092	NM_007198.4(PLPBP):c.114C>G (p.Ile38Met)	PLPBP (I73M +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2136655	NM_007198.4(PLPBP):c.119C>T (p.Pro40Leu)	PLPBP (P75L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2848480	NM_007198.4(PLPBP):c.123G>A (p.Arg41=)	PLPBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2009374	NM_007198.4(PLPBP):c.129G>A (p.Val43=)	PLPBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2018340	NM_007198.4(PLPBP):c.132G>C (p.Ala44=)	PLPBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1920600	NM_007198.4(PLPBP):c.132G>T (p.Ala44=)	PLPBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 714407	NM_007198.4(PLPBP):c.132G>A (p.Ala44=)	PLPBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3307817	NM_007198.4(PLPBP):c.137G>C (p.Ser46Thr)	PLPBP (S81T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1027730	NM_007198.4(PLPBP):c.137G>A (p.Ser46Asn)	PLPBP (S81N +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, early-onset, vitamin B6-dependent	GUncertain significance
Select item 2190980	NM_007198.4(PLPBP):c.145A>G (p.Lys49Glu)	PLPBP (K84E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2129987	NM_007198.4(PLPBP):c.150T>C (p.Pro50=)	PLPBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1965697	NM_007198.4(PLPBP):c.150T>G (p.Pro50=)	PLPBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2068877	NM_007198.4(PLPBP):c.157A>C (p.Met53Leu)	PLPBP (M1L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 775263	NM_007198.4(PLPBP):c.157A>G (p.Met53Val)	PLPBP (M1V +2 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, early-onset, vitamin B6-dependent +1 more	GBenign
Select item 2897496	NM_007198.4(PLPBP):c.159G>A (p.Met53Ile)	PLPBP (M1I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2772398	NM_007198.4(PLPBP):c.162G>T (p.Val54=)	PLPBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2023257	NM_007198.4(PLPBP):c.165C>G (p.Ile55Met)	PLPBP (I90M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986115	NM_007198.4(PLPBP):c.165C>T (p.Ile55=)	PLPBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1901999	NM_007198.4(PLPBP):c.166G>A (p.Glu56Lys)	PLPBP (E4K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1950154	NM_007198.4(PLPBP):c.177A>T (p.Gly59=)	PLPBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1917021	NM_007198.4(PLPBP):c.180T>C (p.His60=)	PLPBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1313241	NM_007198.4(PLPBP):c.187C>T (p.Arg63Cys)	PLPBP (R11C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1934485	NM_007198.4(PLPBP):c.194T>C (p.Phe65Ser)	PLPBP (F65S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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