12393[HGNC] - 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 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	ADAMTS1, ADAMTS5 +643 more	Copy number loss	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 146086	GRCh38/hg38 21q22.12-22.2(chr21:35543872-39993338)x1	B3GALT5, B3GALT5-AS1 +177 more	Copy number loss	See cases	GPathogenic
Select item 144137	GRCh38/hg38 21q22.12-22.2(chr21:35772177-38558509)x1	CBR1, CBR1-AS1 +110 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 59249	GRCh38/hg38 21q22.12-22.2(chr21:36396699-38951223)x3	CHAF1B, CLDN14 +99 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 59250	GRCh38/hg38 21q22.13(chr21:36712503-37408829)x3	DSCR9, DYRK1A +34 more	Copy number gain	See cases	GPathogenic
Select item 149278	GRCh38/hg38 21q22.13(chr21:37001929-37339004)x1	DSCR9, LOC111556145 +19 more	Copy number loss	See cases	GLikely benign
Select item 2467501	NM_001330683.2(TTC3):c.20G>A (p.Gly7Glu)	TTC3 (G7E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184289	NM_001330683.2(TTC3):c.59G>A (p.Cys20Tyr)	TTC3 (C20Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184291	NM_001330683.2(TTC3):c.62C>G (p.Pro21Arg)	TTC3 (P21R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2652653	NM_001330683.2(TTC3):c.75T>C (p.Asp25=)	TTC3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2293282	NM_001330683.2(TTC3):c.185T>C (p.Leu62Ser)	TTC3 (L84S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2521303	NM_001330683.2(TTC3):c.205A>G (p.Ile69Val)	TTC3 (I91V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2380432	NM_001330683.2(TTC3):c.227C>T (p.Ser76Phe)	TTC3 (S98F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184275	NM_001330683.2(TTC3):c.314G>A (p.Arg105Gln)	TTC3 (R105Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2256093	NM_001330683.2(TTC3):c.326G>A (p.Cys109Tyr)	TTC3 (C109Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2210921	NM_001330683.2(TTC3):c.334G>A (p.Ala112Thr)	TTC3 (A112T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2598928	NM_001330683.2(TTC3):c.443T>C (p.Ile148Thr)	TTC3 (I148T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2271107	NM_001330683.2(TTC3):c.529G>A (p.Asp177Asn)	TTC3 (D177N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2552170	NM_001330683.2(TTC3):c.553G>A (p.Gly185Arg)	TTC3 (G207R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184282	NM_001330683.2(TTC3):c.557C>T (p.Ser186Leu)	TTC3 (S186L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 769126	NM_001330683.2(TTC3):c.688-6T>C	TTC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2222410	NM_001330683.2(TTC3):c.730A>G (p.Lys244Glu)	TTC3 (K244E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2346408	NM_001330683.2(TTC3):c.758A>G (p.Tyr253Cys)	TTC3 (Y275C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2332625	NM_001330683.2(TTC3):c.830G>C (p.Arg277Pro)	TTC3 (R299P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2486117	NM_001330683.2(TTC3):c.949T>C (p.Trp317Arg)	TTC3 (W339R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547503	NM_001330683.2(TTC3):c.953C>T (p.Ala318Val)	TTC3 (A8V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302799	NM_001330683.2(TTC3):c.988A>G (p.Lys330Glu)	TTC3 (K330E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220802	NM_001330683.2(TTC3):c.1082A>G (p.Asp361Gly)	TTC3 (D383G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404920	NM_001330683.2(TTC3):c.1127G>A (p.Ser376Asn)	TTC3 (S398N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2382018	NM_001330683.2(TTC3):c.1144T>C (p.Phe382Leu)	TTC3 (F382L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316658	NM_001330683.2(TTC3):c.1213G>A (p.Gly405Ser)	TTC3 (G95S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 718381	NM_001330683.2(TTC3):c.1272T>C (p.Cys424=)	TTC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 769127	NM_001330683.2(TTC3):c.1350A>G (p.Glu450=)	TTC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2592851	NM_001330683.2(TTC3):c.1361C>A (p.Ser454Tyr)	TTC3 (S476Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2587965	NM_001330683.2(TTC3):c.1361C>T (p.Ser454Phe)	TTC3 (S454F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546606	NM_001330683.2(TTC3):c.1433C>G (p.Ala478Gly)	TTC3 (A168G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553239	NM_001330683.2(TTC3):c.1436C>T (p.Ala479Val)	TTC3 (A169V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389288	NM_001330683.2(TTC3):c.1456A>G (p.Ile486Val)	TTC3 (I176V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184264	NM_001330683.2(TTC3):c.1466T>C (p.Met489Thr)	TTC3 (M511T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298865	NM_001330683.2(TTC3):c.1513C>T (p.Arg505Cys)	TTC3 (R195C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184266	NM_001330683.2(TTC3):c.1519C>T (p.Arg507Cys)	TTC3 (R197C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558932	NM_001330683.2(TTC3):c.1573A>G (p.Ile525Val)	TTC3 (I525V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 57360	GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1	ABCG1, B3GALT5 +224 more	Copy number loss	See cases	GPathogenic
Select item 2455443	NM_001330683.2(TTC3):c.1667C>G (p.Ser556Cys)	TTC3 (S246C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358291	NM_001330683.2(TTC3):c.1789A>C (p.Asn597His)	TTC3 (N619H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495966	NM_001330683.2(TTC3):c.1822C>T (p.Arg608Cys)	TTC3 (R630C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242455	NM_001330683.2(TTC3):c.1840A>G (p.Thr614Ala)	TTC3 (T304A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255106	NM_001330683.2(TTC3):c.1882C>G (p.Gln628Glu)	TTC3 (Q318E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 711760	NM_001330683.2(TTC3):c.1884A>G (p.Gln628=)	TTC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2366393	NM_001330683.2(TTC3):c.1887A>T (p.Lys629Asn)	TTC3 (K319N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184267	NM_001330683.2(TTC3):c.1921T>C (p.Cys641Arg)	TTC3 (C663R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357296	NM_001330683.2(TTC3):c.1944T>G (p.Asp648Glu)	TTC3 (D338E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463014	NM_001330683.2(TTC3):c.2026C>T (p.Arg676Cys)	TTC3 (R366C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184268	NM_001330683.2(TTC3):c.2033G>C (p.Ser678Thr)	TTC3 (S368T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339967	NM_001330683.2(TTC3):c.2043G>C (p.Gln681His)	TTC3 (Q703H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184269	NM_001330683.2(TTC3):c.2119G>A (p.Asp707Asn)	TTC3 (D397N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481403	NM_001330683.2(TTC3):c.2126T>C (p.Leu709Pro)	TTC3 (L399P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219354	NM_001330683.2(TTC3):c.2144C>T (p.Thr715Ile)	TTC3 (T405I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552019	NM_001330683.2(TTC3):c.2155G>A (p.Glu719Lys)	TTC3 (E741K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311630	NM_001330683.2(TTC3):c.2179A>G (p.Ile727Val)	TTC3 (I417V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204997	NM_001330683.2(TTC3):c.2237A>C (p.Lys746Thr)	TTC3 (K436T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184270	NM_001330683.2(TTC3):c.2249G>T (p.Arg750Ile)	TTC3 (R440I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184271	NM_001330683.2(TTC3):c.2297A>G (p.Lys766Arg)	TTC3 (K44R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351681	NM_001330683.2(TTC3):c.2314A>G (p.Lys772Glu)	TTC3 (K50E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184272	NM_001330683.2(TTC3):c.2431C>G (p.Gln811Glu)	TTC3 (Q833E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184273	NM_001330683.2(TTC3):c.2435G>A (p.Arg812His)	TTC3 (R502H +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2615928	NM_001330683.2(TTC3):c.2536C>T (p.Leu846Phe)	TTC3 (L536F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347823	NM_001330683.2(TTC3):c.2579T>C (p.Phe860Ser)	TTC3 (F550S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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