4047[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 384

<< First< Prev

Page of 4

	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 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 1291872	NM_002340.6(LSS):c.*78del	LSS	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1235234	NM_002340.6(LSS):c.*33G>A	LSS	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2327030	NM_002340.6(LSS):c.2193C>A (p.His731Gln)	LSS (H651Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121361	NM_002340.6(LSS):c.2171C>G (p.Pro724Arg)	LSS (P644R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1805095	NM_002340.6(LSS):c.2149_2161del (p.Gly717fs)	LSS (G637fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 2904834	NM_002340.6(LSS):c.2148C>T (p.Leu716=)	LSS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2231899	NM_002340.6(LSS):c.2141G>T (p.Trp714Leu)	LSS (W634L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 834065	NM_002340.6(LSS):c.2114C>A (p.Thr705Lys)	LSS (T705K +2 more)	Single nucleotide variant (missense variant)	Alopecia-intellectual disability syndrome 4	GPathogenic
Select item 1929596	NM_002340.6(LSS):c.2073C>T (p.Asn691=)	LSS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1277484	NM_002340.6(LSS):c.2068-136A>G	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233283	NM_002340.6(LSS):c.2068-161T>C	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266874	NM_002340.6(LSS):c.2068-209T>C	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192855	NM_002340.6(LSS):c.2068-273G>A	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211649	NM_002340.6(LSS):c.2067+250C>T	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2713031	NM_002340.6(LSS):c.2067+7C>T	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3121360	NM_002340.6(LSS):c.2066A>C (p.Gln689Pro)	LSS (Q689P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 668540	NM_002340.6(LSS):c.2063C>T (p.Pro688Leu)	LSS (P677L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2352802	NM_002340.6(LSS):c.2051A>G (p.Asn684Ser)	LSS (N604S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2561902	NM_002340.6(LSS):c.2044C>T (p.Leu682Phe)	LSS (L602F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2894049	NM_002340.6(LSS):c.2022C>T (p.Val674=)	LSS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695655	NM_002340.6(LSS):c.1990C>T (p.His664Tyr)	LSS (H584Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1593474	NM_002340.6(LSS):c.1989-20T>G	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287112	NM_002340.6(LSS):c.1989-293T>G	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183357	NM_002340.6(LSS):c.1988+236A>G	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270190	NM_002340.6(LSS):c.1988+211A>C	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1683859	NM_002340.6(LSS):c.1988+114C>G	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963394	NM_002340.6(LSS):c.1988+17C>T	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3033449	NM_002340.6(LSS):c.1988+9G>A	LSS	Single nucleotide variant (intron variant)	LSS-related disorder	GLikely benign
Select item 1216227	NM_002340.6(LSS):c.1988+8C>T	LSS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3031482	NM_002340.6(LSS):c.1983C>T (p.Ala661=)	LSS	Single nucleotide variant (synonymous variant)	LSS-related disorder	GLikely benign
Select item 1707553	NM_002340.6(LSS):c.1955C>T (p.Thr652Ile)	LSS (T572I +2 more)	Single nucleotide variant (missense variant)	Alopecia-intellectual disability syndrome 4	GPathogenic
Select item 677176	NM_002340.6(LSS):c.1950T>C (p.His650=)	LSS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1490531	NM_002340.6(LSS):c.1947C>G (p.Ile649Met)	LSS (I649M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206101	NM_002340.6(LSS):c.1943A>T (p.Gln648Leu)	LSS (Q568L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206230	NM_002340.6(LSS):c.1942C>T (p.Gln648Ter)	LSS (Q568* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 677175	NM_002340.6(LSS):c.1924T>G (p.Leu642Val)	LSS (L631V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1176437	NM_002340.6(LSS):c.1898T>C (p.Phe633Ser)	LSS (F553S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985021	NM_002340.6(LSS):c.1895A>G (p.Asp632Gly)	LSS (D552G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 599318	NM_002340.6(LSS):c.1887G>T (p.Trp629Cys)	LSS (W629C +2 more)	Single nucleotide variant (missense variant)	Cataract 44	GPathogenic
Select item 2049091	NM_002340.6(LSS):c.1878C>T (p.Asp626=)	LSS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783884	NM_002340.6(LSS):c.1865G>A (p.Arg622Gln)	LSS (R542Q +2 more)	Single nucleotide variant (missense variant)	LSS-related disorder +1 more	GBenign
Select item 1244264	NM_002340.6(LSS):c.1840C>T (p.Arg614Trp)	LSS (R534W +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2347605	NM_002340.6(LSS):c.1822G>A (p.Ala608Thr)	LSS (A528T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1904747	NM_002340.6(LSS):c.1818-15C>T	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265917	NM_002340.6(LSS):c.1818-85C>A	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210616	NM_002340.6(LSS):c.1817+187C>G	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265444	NM_002340.6(LSS):c.1817+89GTTT[5]	LSS	Microsatellite (intron variant)	not provided	GBenign
Select item 2053576	NM_002340.6(LSS):c.1817+8A>C	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972956	NM_002340.6(LSS):c.1810C>T (p.Arg604Ter)	LSS (R524* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3121359	NM_002340.6(LSS):c.1793G>A (p.Cys598Tyr)	LSS (C598Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 769142	NM_002340.6(LSS):c.1788C>T (p.Phe596=)	LSS	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 221226	NM_002340.6(LSS):c.1762G>A (p.Gly588Ser)	LSS (G588S +2 more)	Single nucleotide variant (missense variant)	Hypotrichosis 14	GUncertain significance
Select item 3026504	NM_002340.6(LSS):c.1758C>T (p.Thr586=)	LSS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 221227	NM_002340.6(LSS):c.1741T>C (p.Trp581Arg)	LSS (W581R +2 more)	Single nucleotide variant (missense variant)	Cataract 44	GPathogenic

<< First< Prev

Page of 4