HGD[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 552

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	ABTB1, ADCY5 +570 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	ADCY5, ADPRH +286 more	Copy number loss	See cases	GPathogenic
Select item 146711	GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1	ADPRH, ARGFX +199 more	Copy number loss	See cases	GPathogenic
Select item 154810	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4	ADPRH, ARHGAP31 +101 more	Copy number gain	See cases	GUncertain significance
Select item 146286	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120797026)x4	ADPRH, ARHGAP31 +100 more	Copy number gain	See cases	GUncertain significance
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC126806792, LOC126806793 +291 more	Copy number loss	See cases	GPathogenic
Select item 145353	GRCh38/hg38 3q13.33(chr3:120286468-121375425)x3	FSTL1, GTF2E1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 149283	GRCh38/hg38 3q13.33(chr3:120601884-121357490)x3	GTF2E1, HGD +11 more	Copy number gain	See cases	GUncertain significance
Select item 342734	NM_000187.3(HGD):c.*210G>A	HGD	Single nucleotide variant	Alkaptonuria	GUncertain significance
Select item 900841	NM_000187.4(HGD):c.*155A>G	HGD	Single nucleotide variant (3 prime UTR variant)	Alkaptonuria	GUncertain significance
Select item 900842	NM_000187.4(HGD):c.*145C>T	HGD	Single nucleotide variant (3 prime UTR variant)	Alkaptonuria	GUncertain significance
Select item 900843	NM_000187.4(HGD):c.*117G>A	HGD	Single nucleotide variant (3 prime UTR variant)	Alkaptonuria	GUncertain significance
Select item 900844	NM_000187.4(HGD):c.*32G>A	HGD	Single nucleotide variant (3 prime UTR variant)	Alkaptonuria	GUncertain significance
Select item 188735	NM_000187.4(HGD):c.1336T>C (p.Ter446Arg)	HGD	Single nucleotide variant (stop lost)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1090702	NM_000187.4(HGD):c.1335T>C (p.Asn445=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 1944135	NM_000187.4(HGD):c.1332T>C (p.Pro444=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2826201	NM_000187.4(HGD):c.1320C>T (p.Asn440=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2103410	NM_000187.4(HGD):c.1314C>T (p.Ser438=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 1624934	NM_000187.4(HGD):c.1305T>C (p.Thr435=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 449571	NM_000187.4(HGD):c.1290_1300del (p.Lys431fs)	HGD (K431fs)	Deletion (frameshift variant)	Alkaptonuria +1 more	GConflicting classifications of pathogenicity
Select item 1101556	NM_000187.4(HGD):c.1299C>T (p.His433=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 1151670	NM_000187.4(HGD):c.1290C>T (p.Leu430=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 1071828	NM_000187.4(HGD):c.1288del (p.Leu430fs)	HGD (L430fs)	Deletion (frameshift variant)	Alkaptonuria	GPathogenic
Select item 591915	NM_000187.4(HGD):c.1288C>A (p.Leu430Ile)	HGD (L430I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1666384	NM_000187.4(HGD):c.1287A>T (p.Pro429=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2572495	NM_000187.4(HGD):c.1281G>A (p.Trp427Ter)	HGD (W427*)	Single nucleotide variant (nonsense)	Alkaptonuria	GUncertain significance
Select item 2958656	NM_000187.4(HGD):c.1275G>A (p.Lys425=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 1458490	NM_000187.4(HGD):c.1269C>A (p.Tyr423Ter)	HGD (Y423*)	Single nucleotide variant (nonsense)	Alkaptonuria	GPathogenic
Select item 900845	NM_000187.4(HGD):c.1266C>T (p.Asn422=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GUncertain significance
Select item 2234920	NM_000187.4(HGD):c.1253G>A (p.Cys418Tyr)	HGD (C418Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2887853	NM_000187.4(HGD):c.1249A>C (p.Arg417=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2584691	NM_000187.4(HGD):c.1189-41_1248del	HGD	Deletion (splice acceptor variant)	Alkaptonuria	GPathogenic
Select item 1106517	NM_000187.4(HGD):c.1248C>T (p.Ser416=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 1368315	NM_000187.4(HGD):c.1245del (p.Ser416fs)	HGD (S416fs)	Deletion (frameshift variant)	Alkaptonuria	GPathogenic
Select item 3105629	NM_000187.4(HGD):c.1243G>A (p.Ala415Thr)	HGD (A415T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2872351	NM_000187.4(HGD):c.1242G>A (p.Lys414=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2909927	NM_000187.4(HGD):c.1230G>A (p.Lys410=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 342735	NM_000187.4(HGD):c.1221G>A (p.Ala407=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GBenign/Likely benign
Select item 342736	NM_000187.4(HGD):c.1206A>G (p.Ser402=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GConflicting classifications of pathogenicity
Select item 371502	NM_000187.4(HGD):c.1201G>C (p.Glu401Gln)	HGD (E401Q)	Single nucleotide variant (missense variant)	Alkaptonuria	GPathogenic/Likely pathogenic
Select item 2905488	NM_000187.4(HGD):c.1191A>G (p.Ala397=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 342737	NM_000187.4(HGD):c.1191A>C (p.Ala397=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GBenign
Select item 902517	NM_000187.4(HGD):c.1189-4C>T	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GUncertain significance
Select item 1641337	NM_000187.4(HGD):c.1189-8T>A	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2767349	NM_000187.4(HGD):c.1189-14G>A	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2731645	NM_000187.4(HGD):c.1189-20C>G	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2584690	NM_000187.4(HGD):c.1007-1709_1188+1121del	HGD	Deletion (splice acceptor variant +1 more)	Alkaptonuria	GPathogenic
Select item 645876	NC_000003.12:g.(?_120633127)_(120633348_?)del	HGD	Deletion	Alkaptonuria	GPathogenic
Select item 2584714	NM_000187.4(HGD):c.1188+8T>A	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GPathogenic
Select item 1630062	NM_000187.4(HGD):c.1188+8T>C	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2414631	NM_000187.4(HGD):c.1188+7A>T	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2064427	NM_000187.4(HGD):c.1188+2T>A	HGD	Single nucleotide variant (splice donor variant)	Alkaptonuria	GPathogenic
Select item 1073765	NM_000187.4(HGD):c.1188+1G>A	HGD	Single nucleotide variant (splice donor variant)	Alkaptonuria	GPathogenic
Select item 370979	NM_000187.4(HGD):c.1188+1G>T	HGD	Single nucleotide variant (splice donor variant)	Alkaptonuria	GPathogenic/Likely pathogenic
Select item 2527403	NM_000187.4(HGD):c.1186A>G (p.Met396Val)	HGD (M396V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1076110	NM_000187.4(HGD):c.1185del (p.Met396fs)	HGD (M396fs)	Deletion (frameshift variant)	Alkaptonuria	GPathogenic
Select item 902518	NM_000187.4(HGD):c.1179T>C (p.Asp393=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GBenign/Likely benign
Select item 342738	NM_000187.4(HGD):c.1176C>T (p.Ala392=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GConflicting classifications of pathogenicity
Select item 3105628	NM_000187.4(HGD):c.1174G>A (p.Ala392Thr)	HGD (A392T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3050815	NM_000187.4(HGD):c.1164T>C (p.Pro388=)	HGD	Single nucleotide variant (synonymous variant)	HGD-related disorder	GLikely benign
Select item 2158292	NM_000187.4(HGD):c.1162C>T (p.Pro388Ser)	HGD (P388S)	Single nucleotide variant (missense variant)	Alkaptonuria	GUncertain significance
Select item 2026406	NM_000187.4(HGD):c.1157_1160del (p.Leu386fs)	HGD (L386fs)	Deletion (frameshift variant)	Alkaptonuria	GPathogenic
Select item 2754353	NM_000187.4(HGD):c.1131C>A (p.Cys377Ter)	HGD (C377*)	Single nucleotide variant (nonsense)	Alkaptonuria	GPathogenic
Select item 729972	NM_000187.4(HGD):c.1128C>G (p.Asp376Glu)	HGD (D376E)	Single nucleotide variant (missense variant)	Alkaptonuria	GLikely benign
Select item 550232	NM_000187.4(HGD):c.1120G>C (p.Asp374His)	HGD (D374H)	Single nucleotide variant (missense variant)	Alkaptonuria	GConflicting classifications of pathogenicity
Select item 2499874	NM_000187.4(HGD):c.1118C>T (p.Pro373Leu)	HGD (P373L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2584694	NM_000187.4(HGD):c.1115_1117del (p.Gly372_Pro373delinsAla)	HGD	Deletion (inframe_indel)	Alkaptonuria	GPathogenic
Select item 902519	NM_000187.4(HGD):c.1115G>T (p.Gly372Val)	HGD (G372V)	Single nucleotide variant (missense variant)	Alkaptonuria	GUncertain significance
Select item 861290	NM_000187.4(HGD):c.1114G>A (p.Gly372Arg)	HGD (G372R)	Single nucleotide variant (missense variant)	Alkaptonuria	GLikely pathogenic
Select item 2003221	NM_000187.4(HGD):c.1112dup (p.His371fs)	HGD (H371fs)	Duplication (frameshift variant)	Alkaptonuria	GPathogenic
Select item 65573	NM_000187.4(HGD):c.1111dup (p.His371fs)	HGD (H371fs)	Duplication (frameshift variant)	Alkaptonuria	GPathogenic
Select item 3172	NM_000187.4(HGD):c.1112A>G (p.His371Arg)	HGD (H371R)	Single nucleotide variant (missense variant)	Alkaptonuria	GLikely pathogenic
Select item 1454693	NM_000187.4(HGD):c.1111del (p.His371fs)	HGD (H371fs)	Deletion (frameshift variant)	Alkaptonuria	GPathogenic
Select item 2879176	NM_000187.4(HGD):c.1110C>T (p.Pro370=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 1094743	NM_000187.4(HGD):c.1110C>A (p.Pro370=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 1645531	NM_000187.4(HGD):c.1107C>A (p.Thr369=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 554865	NM_000187.4(HGD):c.1106C>A (p.Thr369Asn)	HGD (T369N)	Single nucleotide variant (missense variant)	Alkaptonuria	GUncertain significance
Select item 3173	NM_000187.4(HGD):c.1102A>G (p.Met368Val)	HGD (M368V)	Single nucleotide variant (missense variant)	Intervertebral disk calcification +2 more	GPathogenic
Select item 2584698	NM_000187.4(HGD):c.1095_1100dup (p.Thr367_Met368insSerThr)	HGD	Duplication (inframe_insertion)	Alkaptonuria	GPathogenic
Select item 2878221	NM_000187.4(HGD):c.1098C>T (p.Ser366=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2046367	NM_000187.4(HGD):c.1097G>A (p.Ser366Asn)	HGD (S366N)	Single nucleotide variant (missense variant)	Alkaptonuria	GLikely benign
Select item 2627700	NM_000187.4(HGD):c.1085G>A (p.Gly362Glu)	HGD (G362E)	Single nucleotide variant (missense variant)	Alkaptonuria	GPathogenic
Select item 1264349	NM_000187.4(HGD):c.1084G>A (p.Gly362Arg)	HGD (G362R)	Single nucleotide variant (missense variant)	Alkaptonuria	GLikely pathogenic
Select item 550415	NM_000187.4(HGD):c.1081G>A (p.Gly361Arg)	HGD (G361R)	Single nucleotide variant (missense variant)	Alkaptonuria	GUncertain significance
Select item 1533275	NM_000187.4(HGD):c.1080G>C (p.Gly360=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 720231	NM_000187.4(HGD):c.1080G>A (p.Gly360=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria +1 more	GLikely benign
Select item 2627686	NM_000187.4(HGD):c.1079G>C (p.Gly360Ala)	HGD (G360A)	Single nucleotide variant (missense variant)	Alkaptonuria	GPathogenic
Select item 640206	NM_000187.4(HGD):c.1078G>C (p.Gly360Arg)	HGD (G360R)	Single nucleotide variant (missense variant)	Alkaptonuria	GPathogenic
Select item 2734554	NM_000187.4(HGD):c.1076C>T (p.Pro359Leu)	HGD (P359L)	Single nucleotide variant (missense variant)	Alkaptonuria	GLikely pathogenic
Select item 2627704	NM_000187.4(HGD):c.1075C>T (p.Pro359Ser)	HGD (P359S)	Single nucleotide variant (missense variant)	Alkaptonuria	GPathogenic
Select item 1124258	NM_000187.4(HGD):c.1068G>A (p.Gly356=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 370890	NM_000187.4(HGD):c.1064dup (p.Gly356fs)	HGD (G356fs)	Duplication (frameshift variant)	Alkaptonuria	GLikely pathogenic
Select item 2895160	NM_000187.4(HGD):c.1061A>C (p.Gln354Pro)	HGD (Q354P)	Single nucleotide variant (missense variant)	Alkaptonuria	GUncertain significance
Select item 2049452	NM_000187.4(HGD):c.1061A>G (p.Gln354Arg)	HGD (Q354R)	Single nucleotide variant (missense variant)	Alkaptonuria	GUncertain significance
Select item 2584710	NM_000187.4(HGD):c.1060C>T (p.Gln354Ter)	HGD (Q354*)	Single nucleotide variant (nonsense)	Alkaptonuria	GPathogenic

<< First< Prev

Page of 6