9895[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	ADSS1, AK7 +662 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	ADSS1, AHNAK2 +754 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	IGHD3-22, IGHD3-3 +670 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LINC00677, LINC01550 +666 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056627, LOC130056628 +653 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +631 more	Copy number loss	See cases	GPathogenic
Select item 150931	GRCh38/hg38 14q32.2-32.31(chr14:100262836-102500697)x1	BEGAIN, CINP +215 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	MIR494, MIR495 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	LOC130056617, LOC130056618 +571 more	Copy number loss	See cases	GPathogenic
Select item 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	LOC130056492, LOC130056485 +561 more	Copy number loss	See cases	GPathogenic
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	ADSS1, AHNAK2 +441 more	Copy number loss	See cases	GPathogenic
Select item 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	LINC00605, LINC00677 +416 more	Copy number loss	See cases	GPathogenic
Select item 57839	GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1	LOC105378183, LOC112163684 +164 more	Copy number loss	See cases	GPathogenic
Select item 153602	GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	BRF1, ADSS1 +397 more	Copy number loss	See cases	GPathogenic
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	MIR4538, MIR4539 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 1344151	NM_014844.4(TECPR2):c.-260C>T	TECPR2	Single nucleotide variant	Hereditary spastic paraplegia	GUncertain significance
Select item 672764	NM_014844.5(TECPR2):c.-72-211A>G	TECPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 509723	NM_014844.5(TECPR2):c.-28G>A	TECPR2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 380926	NM_014844.5(TECPR2):c.-20A>C	TECPR2	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 989657	NM_014844.5(TECPR2):c.-3G>A	TECPR2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 380941	NM_014844.5(TECPR2):c.-2C>T	TECPR2	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
Select item 2233125	NM_014844.5(TECPR2):c.8C>T (p.Ser3Leu)	TECPR2 (S3L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1586540	NM_014844.5(TECPR2):c.9G>A (p.Ser3=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1120410	NM_014844.5(TECPR2):c.9G>T (p.Ser3=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2158676	NM_014844.5(TECPR2):c.15A>G (p.Ser5=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1344147	NM_014844.5(TECPR2):c.22G>C (p.Val8Leu)	TECPR2 (V8L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1353644	NM_014844.5(TECPR2):c.25dup (p.Thr9fs)	TECPR2 (T9fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 49	GPathogenic
Select item 1125867	NM_014844.5(TECPR2):c.24T>C (p.Val8=)	TECPR2	Single nucleotide variant (synonymous variant)	TECPR2-related disorder +1 more	GLikely benign
Select item 1612992	NM_014844.5(TECPR2):c.27A>G (p.Thr9=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1071035	NM_014844.5(TECPR2):c.35_36del (p.Glu12fs)	TECPR2 (E12fs)	Microsatellite (frameshift variant)	Hereditary spastic paraplegia 49	GPathogenic
Select item 1652617	NM_014844.5(TECPR2):c.33A>G (p.Arg11=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1071213	NM_014844.5(TECPR2):c.34G>T (p.Glu12Ter)	TECPR2 (E12*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 49	GPathogenic
Select item 1139921	NM_014844.5(TECPR2):c.39C>T (p.Phe13=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49 +1 more	GLikely benign
Select item 2766265	NM_014844.5(TECPR2):c.45G>C (p.Pro15=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1140265	NM_014844.5(TECPR2):c.45G>A (p.Pro15=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2719341	NM_014844.5(TECPR2):c.51C>G (p.Tyr17Ter)	TECPR2 (Y17*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 49	GPathogenic
Select item 408913	NM_014844.5(TECPR2):c.53A>G (p.Tyr18Cys)	TECPR2 (Y18C)	Single nucleotide variant (missense variant)	Intellectual disability, FRA12A type +2 more	GUncertain significance
Select item 840468	NM_014844.5(TECPR2):c.55CTC[1] (p.Leu20del)	TECPR2 (L20del)	Microsatellite (inframe_deletion)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 1132709	NM_014844.5(TECPR2):c.57C>T (p.Leu19=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 580029	NM_014844.5(TECPR2):c.67A>G (p.Ile23Val)	TECPR2 (I23V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 1305132	NM_014844.5(TECPR2):c.71C>T (p.Pro24Leu)	TECPR2 (P24L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 773953	NM_014844.5(TECPR2):c.72G>A (p.Pro24=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 3057668	NM_014844.5(TECPR2):c.81C>T (p.Ile27=)	TECPR2	Single nucleotide variant (synonymous variant)	TECPR2-related disorder	GLikely benign
Select item 1658063	NM_014844.5(TECPR2):c.81C>A (p.Ile27=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2771513	NM_014844.5(TECPR2):c.90T>G (p.Gly30=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 540298	NM_014844.5(TECPR2):c.95G>A (p.Arg32His)	TECPR2 (R32H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2731379	NM_014844.5(TECPR2):c.102C>T (p.Ile34=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2162344	NM_014844.5(TECPR2):c.103G>A (p.Val35Met)	TECPR2 (V35M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 1080827	NM_014844.5(TECPR2):c.108C>T (p.Val36=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2282287	NM_014844.5(TECPR2):c.115A>C (p.Thr39Pro)	TECPR2 (T39P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2766291	NM_014844.5(TECPR2):c.117G>C (p.Thr39=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2148735	NM_014844.5(TECPR2):c.117G>T (p.Thr39=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1077242	NM_014844.5(TECPR2):c.120C>T (p.Ala40=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1452378	NM_014844.5(TECPR2):c.123C>G (p.Leu41=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1142591	NM_014844.5(TECPR2):c.123C>T (p.Leu41=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1105920	NM_014844.5(TECPR2):c.132C>T (p.Asn44=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2280983	NM_014844.5(TECPR2):c.137A>G (p.Asp46Gly)	TECPR2 (D46G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1079745	NM_014844.5(TECPR2):c.141C>T (p.Tyr47=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 961418	NM_014844.5(TECPR2):c.142A>G (p.Ile48Val)	TECPR2 (I48V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 1580409	NM_014844.5(TECPR2):c.144C>T (p.Ile48=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2976927	NM_014844.5(TECPR2):c.147G>T (p.Ala49=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1086112	NM_014844.5(TECPR2):c.147G>A (p.Ala49=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1433254	NM_014844.5(TECPR2):c.150G>A (p.Val50=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 1363570	NM_014844.5(TECPR2):c.158G>A (p.Ser53Asn)	TECPR2 (S53N)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 1624192	NM_014844.5(TECPR2):c.162C>T (p.Ile54=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2466920	NM_014844.5(TECPR2):c.163G>A (p.Gly55Ser)	TECPR2 (G55S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1523303	NM_014844.5(TECPR2):c.167T>C (p.Met56Thr)	TECPR2 (M56T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 3016596	NM_014844.5(TECPR2):c.171C>A (p.Leu57=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2724157	NM_014844.5(TECPR2):c.171C>T (p.Leu57=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1106222	NM_014844.5(TECPR2):c.171C>G (p.Leu57=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2154661	NM_014844.5(TECPR2):c.173A>G (p.Tyr58Cys)	TECPR2 (Y58C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 1448941	NM_014844.5(TECPR2):c.173A>T (p.Tyr58Phe)	TECPR2 (Y58F)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 49	GUncertain significance
Select item 1968681	NM_014844.5(TECPR2):c.177G>C (p.Leu59=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1567806	NM_014844.5(TECPR2):c.180C>T (p.Tyr60=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2914062	NM_014844.5(TECPR2):c.183C>T (p.Cys61=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2857170	NM_014844.5(TECPR2):c.190del (p.Leu64fs)	TECPR2 (L64fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 49	GPathogenic
Select item 1548261	NM_014844.5(TECPR2):c.207G>A (p.Lys69=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 570798	NM_014844.5(TECPR2):c.218_219+15del	TECPR2	Deletion (splice donor variant)	Hereditary spastic paraplegia 49	GLikely pathogenic
Select item 2746453	NM_014844.5(TECPR2):c.219+8T>C	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2044977	NM_014844.5(TECPR2):c.219+10G>A	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1218400	NM_014844.5(TECPR2):c.219+242G>A	TECPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185887	NM_014844.5(TECPR2):c.219+272G>A	TECPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197597	NM_014844.5(TECPR2):c.220-313A>G	TECPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196424	NM_014844.5(TECPR2):c.220-290C>T	TECPR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919449	NM_014844.5(TECPR2):c.220-15T>A	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2768615	NM_014844.5(TECPR2):c.220-11C>T	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2847068	NM_014844.5(TECPR2):c.220-10G>C	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1102744	NM_014844.5(TECPR2):c.220-10G>A	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2986021	NM_014844.5(TECPR2):c.220-9T>A	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2104424	NM_014844.5(TECPR2):c.220-8T>C	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1122826	NM_014844.5(TECPR2):c.220-8T>A	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1662834	NM_014844.5(TECPR2):c.220-5C>T	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 1663309	NM_014844.5(TECPR2):c.220-4C>A	TECPR2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity

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