10841[geneid] - ClinVar - NCBI

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	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 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 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 154533	GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1	AATBC, ADARB1 +276 more	Copy number loss	See cases	GPathogenic
Select item 144193	GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1	AATBC, ADARB1 +268 more	Copy number loss	See cases	GPathogenic
Select item 545245	Single allele	AATBC, ADARB1 +245 more	Duplication	Autism	GLikely pathogenic
Select item 59046	GRCh38/hg38 21q22.3(chr21:45110477-46648012)x1	ADARB1, BNAT1 +89 more	Copy number loss	See cases	GPathogenic
Select item 59068	GRCh38/hg38 21q22.3(chr21:45138321-46670405)x1	ADARB1, BNAT1 +89 more	Copy number loss	See cases	GPathogenic
Select item 59069	GRCh38/hg38 21q22.3(chr21:45801860-46670405)x1	C21orf58, COL6A1 +52 more	Copy number loss	See cases	GPathogenic
Select item 221407	GRCh38/hg38 21q22.3(chr21:45850091-46137287)x1	COL6A1, COL6A2 +10 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 148754	GRCh38/hg38 21q22.3(chr21:45877354-46543273)x3	C21orf58, COL6A1 +44 more	Copy number gain	See cases	GLikely benign
Select item 153558	GRCh38/hg38 21q22.3(chr21:45903036-46677460)x1	C21orf58, COL6A1 +50 more	Copy number loss	See cases	GUncertain significance
Select item 128814	NM_001849.4(COL6A2):c.2592G>A (p.Thr864=)	COL6A2, FTCD	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 93944	NM_001849.4(COL6A2):c.2697G>T (p.Thr899=)	COL6A2, FTCD	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 93945	NM_001849.4(COL6A2):c.2724A>G (p.Thr908=)	COL6A2, FTCD	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 93948	NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg)	COL6A2, FTCD	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 93950	NM_001849.4(COL6A2):c.2979C>T (p.Arg993=)	COL6A2, FTCD	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 128815	NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr)	COL6A2, FTCD (A994T)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 93952	NM_001849.4(COL6A2):c.3043A>C (p.Ile1015Leu)	COL6A2, FTCD	Single nucleotide variant (missense variant)	Collagen 6-related myopathy +5 more	GBenign/Likely benign
Select item 340393	NM_001849.4(COL6A2):c.*61G>A	COL6A2, FTCD	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 340398	NM_001849.4(COL6A2):c.*116T>C	COL6A2, FTCD	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 340399	NM_001849.4(COL6A2):c.*119A>G	COL6A2, FTCD	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 340403	NM_001849.4(COL6A2):c.*158C>T	FTCD, COL6A2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 340405	NM_006657.3(FTCD):c.*127C>A	COL6A2, FTCD	Single nucleotide variant (3 prime UTR variant)	COL6A2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 340407	NM_006657.3(FTCD):c.*113C>T	FTCD	Single nucleotide variant (3 prime UTR variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 340408	NM_006657.3(FTCD):c.*67C>T	COL6A2, FTCD	Single nucleotide variant (3 prime UTR variant)	Glutamate formiminotransferase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 340410	NM_006657.3(FTCD):c.*15C>A	COL6A2, FTCD (T564K)	Single nucleotide variant (missense variant +1 more)	Collagen 6-related myopathy +3 more	GConflicting classifications of pathogenicity
Select item 1285284	NM_206965.2(FTCD):c.*108G>A	FTCD	Single nucleotide variant (3 prime UTR variant +1 more)	Glutamate formiminotransferase deficiency	GBenign
Select item 3038708	NM_206965.2(FTCD):c.*80C>G	FTCD	Single nucleotide variant (3 prime UTR variant +1 more)	FTCD-related disorder	GLikely benign
Select item 167101	NM_206965.2(FTCD):c.*19C>T	FTCD (P542L)	Single nucleotide variant (missense variant +2 more)	not specified	GBenign
Select item 2503262	NM_206965.2(FTCD):c.*7G>A	FTCD (R538Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 340411	NM_206965.2(FTCD):c.*1C>T	FTCD (T536M)	Single nucleotide variant (missense variant +1 more)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 958004	NM_206965.2(FTCD):c.1615C>T (p.Arg539Trp)	FTCD (P532L +1 more)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency +1 more	GUncertain significance
Select item 1110836	NM_206965.2(FTCD):c.1614C>T (p.Thr538=)	FTCD (P532S)	Single nucleotide variant (missense variant +1 more)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2696761	NM_206965.2(FTCD):c.1608G>A (p.Leu536=)	FTCD (G530R)	Single nucleotide variant (missense variant +1 more)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 194395	NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter)	FTCD (L536*)	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2177392	NM_206965.2(FTCD):c.1591C>A (p.Leu531Met)	FTCD (T524N +1 more)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 1085854	NM_206965.2(FTCD):c.1590A>G (p.Ala530=)	FTCD (T524A)	Single nucleotide variant (missense variant +1 more)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1415019	NM_206965.2(FTCD):c.1589C>T (p.Ala530Val)	FTCD (A530V)	Single nucleotide variant (synonymous variant +1 more)	Glutamate formiminotransferase deficiency +1 more	GUncertain significance
Select item 167109	NM_206965.2(FTCD):c.1583A>C (p.Gln528Pro)	FTCD (Q528P)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 809305	NM_206965.2(FTCD):c.1577A>G (p.Lys526Arg)	FTCD (K526R)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2954983	NM_206965.2(FTCD):c.1574C>T (p.Ala525Val)	FTCD (A525V)	Single nucleotide variant (synonymous variant +1 more)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 2806923	NM_206965.2(FTCD):c.1563C>T (p.Leu521=)	FTCD (P515S)	Single nucleotide variant (missense variant +1 more)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1309579	NM_206965.2(FTCD):c.1550G>A (p.Arg517His)	FTCD (R517H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1400411	NM_206965.2(FTCD):c.1549C>T (p.Arg517Cys)	FTCD (R517C)	Single nucleotide variant (missense variant +1 more)	Glutamate formiminotransferase deficiency +1 more	GUncertain significance
Select item 1127722	NM_206965.2(FTCD):c.1545C>T (p.His515=)	FTCD	Single nucleotide variant (synonymous variant +1 more)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2532601	NM_206965.2(FTCD):c.1543C>T (p.His515Tyr)	FTCD (H515Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 975235	NM_206965.2(FTCD):c.1540A>G (p.Ile514Val)	FTCD (I514V)	Single nucleotide variant (missense variant +1 more)	Glutamate formiminotransferase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2882399	NM_206965.2(FTCD):c.1540-6C>T	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 340413	NM_206965.2(FTCD):c.1540-17_1540-16del	COL6A2, FTCD	Deletion (intron variant)	Collagen 6-related myopathy +2 more	GConflicting classifications of pathogenicity
Select item 1589554	NM_206965.2(FTCD):c.1539+16G>T	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 842677	NM_206965.2(FTCD):c.1539+4_1539+11del	FTCD	Deletion (intron variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 2573553	NM_206965.2(FTCD):c.1537dup (p.Gln513fs)	FTCD (Q513fs)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 2039791	NM_206965.2(FTCD):c.1522G>A (p.Glu508Lys)	FTCD (E508K)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 1358286	NM_206965.2(FTCD):c.1521C>G (p.Asp507Glu)	FTCD (D507E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1958514	NM_206965.2(FTCD):c.1514T>C (p.Ile505Thr)	FTCD (I505T)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 2538324	NM_206965.2(FTCD):c.1498A>G (p.Ile500Val)	FTCD (I500V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2718949	NM_206965.2(FTCD):c.1497C>T (p.Leu499=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2602907	NM_206965.2(FTCD):c.1492G>A (p.Val498Met)	FTCD (V498M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2442735	NM_206965.2(FTCD):c.1484A>T (p.Tyr495Phe)	FTCD (Y495F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95425	NM_206965.2(FTCD):c.1480G>A (p.Ala494Thr)	FTCD (A494T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 340414	NM_206965.2(FTCD):c.1470C>T (p.Gly490=)	COL6A2, FTCD	Single nucleotide variant (synonymous variant)	Myosclerosis +3 more	GBenign
Select item 1957014	NM_206965.2(FTCD):c.1465A>T (p.Met489Leu)	FTCD (M489L)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 2538246	NM_206965.2(FTCD):c.1462G>A (p.Glu488Lys)	FTCD (E488K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 595818	NM_206965.2(FTCD):c.1448C>T (p.Ala483Val)	FTCD (A483V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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