ClinVar for Gene (Select 152) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273898	NM_000683.4(ADRA2C):c.200T>C (p.Val67Ala)	ADRA2C (V67A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273895	NM_000683.4(ADRA2C):c.47C>T (p.Ala16Val)	ADRA2C (A16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273889	NM_000683.4(ADRA2C):c.1108C>T (p.Arg370Cys)	ADRA2C (R370C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273885	NM_000683.4(ADRA2C):c.122C>T (p.Pro41Leu)	ADRA2C (P41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273882	NM_000683.4(ADRA2C):c.1024G>A (p.Gly342Ser)	ADRA2C (G342S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273879	NM_000683.4(ADRA2C):c.854C>T (p.Pro285Leu)	ADRA2C (P285L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246741	NC_000004.11:g.(?_2357152)_(15176083_?)del	ABLIM2, ACOX3 +83 more	Deletion	not provided	GPathogenic
Select item 3090906	NM_000683.4(ADRA2C):c.908G>A (p.Arg303Gln)	ADRA2C (R303Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090901	NM_000683.4(ADRA2C):c.874G>C (p.Ala292Pro)	ADRA2C (A292P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090893	NM_000683.4(ADRA2C):c.803C>T (p.Ala268Val)	ADRA2C (A268V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090882	NM_000683.4(ADRA2C):c.731T>G (p.Leu244Arg)	ADRA2C (L244R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090874	NM_000683.4(ADRA2C):c.479A>C (p.Asn160Thr)	ADRA2C (N160T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3060490	NM_000683.4(ADRA2C):c.996G>A (p.Ala332=)	ADRA2C	Single nucleotide variant (synonymous variant)	ADRA2C-related disorder	GBenign
Select item 3060026	NM_000683.4(ADRA2C):c.1167C>T (p.Gly389=)	ADRA2C	Single nucleotide variant (synonymous variant)	ADRA2C-related disorder	GBenign
Select item 3057567	NM_000683.4(ADRA2C):c.297G>C (p.Leu99=)	ADRA2C	Single nucleotide variant (synonymous variant)	ADRA2C-related disorder	GLikely benign
Select item 3050754	NM_000683.4(ADRA2C):c.1015C>T (p.Pro339Ser)	ADRA2C (P339S)	Single nucleotide variant (missense variant)	ADRA2C-related disorder	GBenign
Select item 3046253	NM_000683.4(ADRA2C):c.942_950del (p.313GGA[1])	ADRA2C	Deletion	ADRA2C-related disorder	GLikely benign
Select item 3040787	NM_000683.4(ADRA2C):c.312C>A (p.Val104=)	ADRA2C	Single nucleotide variant (synonymous variant)	ADRA2C-related disorder	GLikely benign
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	MSANTD1, MSX1 +117 more	Copy number loss	not provided	GPathogenic
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
Select item 2654606	NM_000683.4(ADRA2C):c.951T>C (p.Gly317=)	ADRA2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621944	NM_000683.4(ADRA2C):c.100G>A (p.Ala34Thr)	ADRA2C (A34T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592920	NM_000683.4(ADRA2C):c.593C>A (p.Ala198Asp)	ADRA2C (A198D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	USP17L24, USP17L25 +132 more	Copy number loss	not provided	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2523092	NM_000683.4(ADRA2C):c.778A>G (p.Thr260Ala)	ADRA2C (T260A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516219	NM_000683.4(ADRA2C):c.100G>T (p.Ala34Ser)	ADRA2C (A34S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474699	NM_000683.4(ADRA2C):c.11C>A (p.Pro4Gln)	ADRA2C (P4Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467433	NM_000683.4(ADRA2C):c.1025G>T (p.Gly342Val)	ADRA2C (G342V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465072	NM_000683.4(ADRA2C):c.937G>A (p.Gly313Arg)	ADRA2C (G313R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460547	NM_000683.4(ADRA2C):c.134A>G (p.Gln45Arg)	ADRA2C (Q45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402319	NM_000683.4(ADRA2C):c.761A>T (p.Asp254Val)	ADRA2C (D254V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399081	NM_000683.4(ADRA2C):c.995C>T (p.Ala332Val)	ADRA2C (A332V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394157	NM_000683.4(ADRA2C):c.119G>A (p.Gly40Glu)	ADRA2C (G40E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390739	NM_000683.4(ADRA2C):c.956A>G (p.Asp319Gly)	ADRA2C (D319G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386721	NM_000683.4(ADRA2C):c.838C>T (p.Pro280Ser)	ADRA2C (P280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357563	NM_000683.4(ADRA2C):c.1174G>A (p.Val392Met)	ADRA2C (V392M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322832	NM_000683.4(ADRA2C):c.707T>C (p.Val236Ala)	ADRA2C (V236A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300087	NM_000683.4(ADRA2C):c.820G>C (p.Gly274Arg)	ADRA2C (G274R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256108	NM_000683.4(ADRA2C):c.994G>A (p.Ala332Thr)	ADRA2C (A332T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253868	NM_000683.4(ADRA2C):c.104C>T (p.Ser35Leu)	ADRA2C (S35L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235483	NM_000683.4(ADRA2C):c.787G>A (p.Gly263Arg)	ADRA2C (G263R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220740	NM_000683.4(ADRA2C):c.941G>C (p.Gly314Ala)	ADRA2C (G314A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214368	NM_000683.4(ADRA2C):c.877G>C (p.Glu293Gln)	ADRA2C (E293Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210792	NM_000683.4(ADRA2C):c.858C>G (p.Asp286Glu)	ADRA2C (D286E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1707423	GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1	ADD1, ADRA2C +63 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1679802	Single allele	ADRA2C, BLOC1S4 +181 more	Deletion	not provided	GLikely pathogenic
Select item 1341071	GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	HGFAC, UVSSA +141 more	Copy number loss	not provided	GPathogenic
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	FGFBP2, SMIM20 +161 more	Copy number gain	not provided	GPathogenic
Select item 1180545	GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1	RGS12, RNF212 +140 more	Copy number loss	not provided	GPathogenic
Select item 1073308	NC_000004.11:g.(?_2200251)_(5710240_?)del	TMEM128, TNIP2 +28 more	Deletion	Curry-Hall syndrome +1 more	GPathogenic
Select item 1047903	GRCh37/hg19 4p16.3(chr4:388344-3872380)	HGFAC, HTT +48 more	Copy number loss	Generalized hypotonia +2 more	GPathogenic
Select item 979468	GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1	ZFYVE28, CRMP1 +65 more	Copy number loss	not provided	GPathogenic
Select item 979467	GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1	HGFAC, NOP14 +60 more	Copy number loss	not provided	GPathogenic
Select item 979457	GRCh37/hg19 4p16.3(chr4:1941633-3879802)x1	RGS12, LRPAP1 +21 more	Copy number loss	not provided	GPathogenic
Select item 977788	GRCh37/hg19 4p16.3-16.1(chr4:2909440-6871516)	PPP2R2C, RGS12 +32 more	Copy number loss	microdeletion 4p16.3p16.1	GLikely pathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 816497	GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1	ADD1, ABLIM2 +146 more	Copy number loss	See cases	GPathogenic
Select item 814524	GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1	ABLIM2, ACOX3 +114 more	Copy number loss	not provided	GPathogenic
Select item 814523	GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1	ADD1, ADRA2C +76 more	Copy number loss	not provided	GPathogenic
Select item 814522	GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1	ABLIM2, ACOX3 +90 more	Copy number loss	not provided	GPathogenic
Select item 814521	GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1	ABLIM2, ACOX3 +111 more	Copy number loss	not provided	GPathogenic
Select item 814520	GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	ABLIM2, ACOX3 +161 more	Copy number gain	not provided	GPathogenic
Select item 774613	NM_000683.4(ADRA2C):c.933G>C (p.Ala311=)	ADRA2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741014	NM_000683.4(ADRA2C):c.972G>A (p.Gly324=)	ADRA2C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 686294	GRCh37/hg19 4p16.3(chr4:68345-4051616)x3	ADD1, ADRA2C +52 more	Copy number gain	not provided	GPathogenic
Select item 685188	GRCh37/hg19 4p16.3-15.33(chr4:3374195-13468480)x1	ABLIM2, ACOX3 +69 more	Copy number loss	not provided	GPathogenic
Select item 625664	GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411)	JAKMIP1, KIAA0232 +90 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 562881	GRCh37/hg19 4p16.3-16.2(chr4:2364201-5447465)x1	ZFYVE28, SH3BP2 +23 more	Copy number loss	not provided	GPathogenic
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 443978	GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3	ABLIM2, ACOX3 +90 more	Copy number gain	See cases	GLikely pathogenic
Select item 443045	GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1	NELFA, NICOL1 +130 more	Copy number loss	See cases	GPathogenic
Select item 443042	GRCh37/hg19 4p16.3(chr4:68345-4044985)x1	ADD1, ADRA2C +52 more	Copy number loss	See cases	GPathogenic
Select item 442536	GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1	ABLIM2, ACOX3 +120 more	Copy number loss	See cases	GPathogenic
Select item 442268	GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1	ABLIM2, ACOX3 +114 more	Copy number loss	See cases	GPathogenic
Select item 442177	GRCh37/hg19 4p16.3(chr4:68345-3891984)x1	ADD1, ADRA2C +52 more	Copy number loss	See cases	GPathogenic
Select item 441927	GRCh37/hg19 4p16.3-16.2(chr4:68345-5319773)x1	ADD1, ADRA2C +61 more	Copy number loss	See cases	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 394281	GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1	ABLIM2, ACOX3 +121 more	Copy number loss	See cases	GPathogenic
Select item 253666	GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3	ABLIM2, ACOX3 +89 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253431	GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	BOD1L1, LDB2 +161 more	Copy number loss	See cases	GPathogenic
Select item 252966	GRCh37/hg19 4p16.3-16.1(chr4:49450-8872474)x1	KIAA0232, LETM1 +91 more	Copy number loss	See cases	GPathogenic

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