7719[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 139

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	NCAM2, NDUFV3 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	PDE9A-AS1, PDXK +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	LOC130066843, LOC130066844 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653343, LOC126653344 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	LINC00315, LINC00316 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	ATP5PF, ATP5PO +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653350, LOC126653351 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LINC00111, LINC00112 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	TSPEAR-AS1, TSPEAR-AS2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC130066578, LOC130066579 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	LOC126653316, LOC126653317 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	LOC130066758, LOC130066759 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	LOC130066717, LOC130066718 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC125418051, LOC125418052 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	ABCG1, ADAMTS1 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	HSF2BP, HSPA13 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LOC130066756, LOC130066757 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	KRTAP12-3, KRTAP12-4 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC107403153, LOC107548109 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SON, SPATC1L +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066735, LOC130066736 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 154583	GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1	AATBC, ABCG1 +268 more	Copy number loss	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	BNAT1, C21orf58 +416 more	Copy number loss	See cases	GPathogenic
Select item 148266	GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1	AATBC, ABCG1 +376 more	Copy number loss	See cases	GPathogenic
Select item 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	LOC130066735, LOC130066736 +340 more	Copy number loss	See cases	GPathogenic
Select item 57115	GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1	LOC130066806, LOC130066807 +334 more	Copy number loss	See cases	GPathogenic
Select item 583914	NC_000021.8:g.(?_43892908)_(44592410_?)dup	LINC01671, LOC101928212 +45 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 3045103	NM_021075.4(NDUFV3):c.8C>A (p.Ala3Asp)	NDUFV3 (A3D)	Single nucleotide variant (missense variant)	NDUFV3-related disorder	GLikely benign
Select item 3034982	NM_021075.4(NDUFV3):c.10C>T (p.Pro4Ser)	NDUFV3 (P4S)	Single nucleotide variant (missense variant)	NDUFV3-related disorder	GLikely benign
Select item 781907	NM_021075.4(NDUFV3):c.11C>G (p.Pro4Arg)	NDUFV3 (P4R)	Single nucleotide variant (missense variant)	NDUFV3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2524866	NM_021075.4(NDUFV3):c.23G>T (p.Arg8Leu)	NDUFV3 (R8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055876	NM_021075.4(NDUFV3):c.48+7G>A	NDUFV3	Single nucleotide variant (intron variant)	NDUFV3-related disorder	GLikely benign
Select item 3188707	NM_021075.4(NDUFV3):c.88T>C (p.Ser30Pro)	NDUFV3 (S30P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524054	NM_021075.4(NDUFV3):c.129G>C (p.Lys43Asn)	NDUFV3 (K43N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403223	NM_021075.4(NDUFV3):c.168A>C (p.Lys56Asn)	NDUFV3 (K56N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3046021	NM_021075.4(NDUFV3):c.170-3C>T	NDUFV3	Single nucleotide variant (intron variant)	NDUFV3-related disorder	GLikely benign
Select item 2553517	NM_021075.4(NDUFV3):c.191G>C (p.Arg64Thr)	NDUFV3 (R64T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3046290	NM_021075.4(NDUFV3):c.210C>T (p.Thr70=)	NDUFV3	Single nucleotide variant (synonymous variant +1 more)	NDUFV3-related disorder	GLikely benign
Select item 2244153	NM_021075.4(NDUFV3):c.266C>T (p.Ala89Val)	NDUFV3 (A89V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2242935	NM_021075.4(NDUFV3):c.332G>A (p.Gly111Glu)	NDUFV3 (G111E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188662	NM_021075.4(NDUFV3):c.334G>A (p.Val112Ile)	NDUFV3 (V112I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056561	NM_021075.4(NDUFV3):c.339G>A (p.Pro113=)	NDUFV3	Single nucleotide variant (synonymous variant +1 more)	NDUFV3-related disorder	GBenign
Select item 2347643	NM_021075.4(NDUFV3):c.368A>C (p.Glu123Ala)	NDUFV3 (E123A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329685	NM_021075.4(NDUFV3):c.388T>G (p.Ser130Ala)	NDUFV3 (S130A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188673	NM_021075.4(NDUFV3):c.424C>T (p.Arg142Cys)	NDUFV3 (R142C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188676	NM_021075.4(NDUFV3):c.436C>T (p.Arg146Trp)	NDUFV3 (R146W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1290051	NM_021075.4(NDUFV3):c.468T>G (p.Ser156=)	NDUFV3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3188678	NM_021075.4(NDUFV3):c.474C>A (p.Ser158Arg)	NDUFV3 (S158R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3048046	NM_021075.4(NDUFV3):c.474C>T (p.Ser158=)	NDUFV3	Single nucleotide variant (synonymous variant +1 more)	NDUFV3-related disorder	GLikely benign
Select item 2562509	NM_021075.4(NDUFV3):c.521C>T (p.Thr174Ile)	NDUFV3 (T174I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230567	NM_021075.4(NDUFV3):c.527G>A (p.Arg176Gln)	NDUFV3 (R176Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2486507	NM_021075.4(NDUFV3):c.530T>G (p.Val177Gly)	NDUFV3 (V177G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188686	NM_021075.4(NDUFV3):c.548G>A (p.Gly183Glu)	NDUFV3 (G183E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379985	NM_021075.4(NDUFV3):c.568G>A (p.Ala190Thr)	NDUFV3 (A190T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3059190	NM_021075.4(NDUFV3):c.598C>T (p.Arg200Ter)	NDUFV3 (R200*)	Single nucleotide variant (nonsense +1 more)	NDUFV3-related disorder	GBenign
Select item 2362209	NM_021075.4(NDUFV3):c.599G>A (p.Arg200Gln)	NDUFV3 (R200Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3050966	NM_021075.4(NDUFV3):c.648G>A (p.Val216=)	NDUFV3	Single nucleotide variant (synonymous variant +1 more)	NDUFV3-related disorder	GLikely benign
Select item 2545283	NM_021075.4(NDUFV3):c.733C>T (p.Pro245Ser)	NDUFV3 (P245S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283356	NM_021075.4(NDUFV3):c.742A>G (p.Thr248Ala)	NDUFV3 (T248A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204289	NM_021075.4(NDUFV3):c.743C>T (p.Thr248Ile)	NDUFV3 (T248I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368388	NM_021075.4(NDUFV3):c.835A>G (p.Lys279Glu)	NDUFV3 (K279E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3051500	NM_021075.4(NDUFV3):c.903G>A (p.Ala301=)	NDUFV3	Single nucleotide variant (synonymous variant +1 more)	NDUFV3-related disorder	GLikely benign
Select item 2264361	NM_021075.4(NDUFV3):c.1039C>T (p.Pro347Ser)	NDUFV3 (P347S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2207988	NM_021075.4(NDUFV3):c.1111G>A (p.Val371Met)	NDUFV3 (V371M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188604	NM_021075.4(NDUFV3):c.1209G>C (p.Glu403Asp)	NDUFV3 (E403D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3051083	NM_021075.4(NDUFV3):c.1209G>A (p.Glu403=)	NDUFV3	Single nucleotide variant (synonymous variant +1 more)	NDUFV3-related disorder	GLikely benign
Select item 2601101	NM_021075.4(NDUFV3):c.1213G>A (p.Glu405Lys)	NDUFV3 (E405K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3045771	NM_021075.4(NDUFV3):c.1218C>T (p.Ala406=)	NDUFV3	Single nucleotide variant (synonymous variant +1 more)	NDUFV3-related disorder	GLikely benign
Select item 2588995	NM_021075.4(NDUFV3):c.1235C>T (p.Ala412Val)	NDUFV3 (A412V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 498914	NM_021075.4(NDUFV3):c.1249C>T (p.Arg417Ter)	NDUFV3 (R417*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3188635	NM_021075.4(NDUFV3):c.1337C>T (p.Thr446Met)	NDUFV3 (T446M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188641	NM_021075.4(NDUFV3):c.1418A>G (p.His473Arg)	NDUFV3 (H108R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034910	NM_021075.4(NDUFV3):c.*3G>A	NDUFV3	Single nucleotide variant (3 prime UTR variant)	NDUFV3-related disorder	GLikely benign
Select item 3034947	NM_021075.4(NDUFV3):c.*4C>G	NDUFV3	Single nucleotide variant (3 prime UTR variant)	NDUFV3-related disorder	GLikely benign
Select item 154533	GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1	AATBC, ADARB1 +276 more	Copy number loss	See cases	GPathogenic
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062426	GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1	DNMT3L, PRMT2 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	COL6A1, COL6A2 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062421	GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1	COL18A1, S100B +72 more	Copy number loss	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	CBS, ITGB2 +186 more	Copy number gain	not specified	GPathogenic
Select item 2685664	GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	ABCG1, ADARB1 +92 more	Copy number loss	not provided	GPathogenic
Select item 2684918	GRCh37/hg19 21q22.3(chr21:43744362-44784657)x3	CBS, CRYAA +11 more	Copy number gain	not provided	GUncertain significance
Select item 2684917	GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3	ABCG1, ADARB1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic

<< First< Prev

Page of 2