51626[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 147991	GRCh38/hg38 2p21(chr2:43676810-45016061)x3	ABCG5, ABCG8 +34 more	Copy number gain	See cases	GUncertain significance
Select item 146326	GRCh38/hg38 2p21(chr2:43762375-44960289)x3	ABCG5, ABCG8 +32 more	Copy number gain	See cases	GUncertain significance
Select item 1226633	NC_000002.12:g.43773993G>C	DYNC2LI1	Single nucleotide variant	not provided	GBenign
Select item 1260273	NC_000002.12:g.43774000C>T	DYNC2LI1	Single nucleotide variant	not provided	GBenign
Select item 1246768	NM_016008.4(DYNC2LI1):c.-62C>T	DYNC2LI1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 518437	NM_016008.4(DYNC2LI1):c.2T>C (p.Met1Thr)	DYNC2LI1 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2119502	NM_016008.4(DYNC2LI1):c.8+9T>C	DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1603509	NM_016008.4(DYNC2LI1):c.8+14C>T	DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1642468	NM_016008.4(DYNC2LI1):c.8+15C>G	DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1548688	NM_016008.4(DYNC2LI1):c.9-13G>A	DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 740070	NM_016008.4(DYNC2LI1):c.9-4G>A	DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1993729	NM_016008.4(DYNC2LI1):c.11A>G (p.Glu4Gly)	DYNC2LI1 (E4G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446256	NM_016008.4(DYNC2LI1):c.14C>G (p.Thr5Ser)	DYNC2LI1 (T5S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1106719	NM_016008.4(DYNC2LI1):c.18_19del (p.Trp7fs)	DYNC2LI1 (W7fs)	Microsatellite (frameshift variant)	Short-rib thoracic dysplasia 15 with polydactyly	GPathogenic
Select item 719316	NM_016008.4(DYNC2LI1):c.16C>T (p.Leu6Phe)	DYNC2LI1 (L6F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2111549	NM_016008.4(DYNC2LI1):c.34G>C (p.Ala12Pro)	DYNC2LI1 (A12P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3086551	NM_016008.4(DYNC2LI1):c.37G>C (p.Glu13Gln)	DYNC2LI1 (E13Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1362750	NM_016008.4(DYNC2LI1):c.50G>T (p.Arg17Met)	DYNC2LI1 (R17M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1442331	NM_016008.4(DYNC2LI1):c.67G>A (p.Glu23Lys)	DYNC2LI1 (E23K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2080657	NM_016008.4(DYNC2LI1):c.71G>A (p.Gly24Asp)	DYNC2LI1 (G24D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1255528	NM_016008.4(DYNC2LI1):c.98T>C (p.Phe33Ser)	DYNC2LI1 (F33S)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 15 with polydactyly +1 more	GBenign
Select item 2151930	NM_016008.4(DYNC2LI1):c.115A>T (p.Ser39Cys)	DYNC2LI1 (S39C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 518439	NM_016008.4(DYNC2LI1):c.123_124insA (p.Gly42fs)	DYNC2LI1 (G42fs)	Insertion (frameshift variant)	Short-rib thoracic dysplasia 15 with polydactyly	GPathogenic
Select item 1364648	NM_016008.4(DYNC2LI1):c.126G>C (p.Gly42=)	DYNC2LI1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2970016	NM_016008.4(DYNC2LI1):c.126+18dup	DYNC2LI1	Duplication (intron variant)	not provided	GBenign
Select item 1262547	NM_016008.4(DYNC2LI1):c.126+61T>G	DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294721	NM_016008.4(DYNC2LI1):c.127-39G>A	DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1630212	NM_016008.4(DYNC2LI1):c.127-20C>G	DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1574133	NM_016008.4(DYNC2LI1):c.127-19C>T	DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1806344	NM_016008.4(DYNC2LI1):c.127-8A>G	DYNC2LI1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 15 with polydactyly	GUncertain significance
Select item 2782763	NM_016008.4(DYNC2LI1):c.127-2A>G	DYNC2LI1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1477816	NM_016008.4(DYNC2LI1):c.127-2A>C	DYNC2LI1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2176320	NM_016008.4(DYNC2LI1):c.161+9T>C	DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249783	NM_016008.4(DYNC2LI1):c.161+194G>T	DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274032	NM_016008.4(DYNC2LI1):c.162-19A>G	DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1674614	NM_016008.4(DYNC2LI1):c.162-14C>G	DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2122259	NM_016008.4(DYNC2LI1):c.162-5T>C	DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1446670	NM_016008.4(DYNC2LI1):c.164A>G (p.Asp55Gly)	DYNC2LI1 (D55G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2320025	NM_016008.4(DYNC2LI1):c.185T>C (p.Leu62Ser)	DYNC2LI1 (L62S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2112233	NM_016008.4(DYNC2LI1):c.197A>G (p.Tyr66Cys)	DYNC2LI1 (Y66C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1512083	NM_016008.4(DYNC2LI1):c.203A>G (p.Tyr68Cys)	DYNC2LI1 (Y68C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1294723	NM_016008.4(DYNC2LI1):c.232-170G>A	DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1637400	NM_016008.4(DYNC2LI1):c.232-20C>A	DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004349	NM_016008.4(DYNC2LI1):c.234A>T (p.Pro78=)	DYNC2LI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094011	NM_016008.4(DYNC2LI1):c.239A>G (p.Asp80Gly)	DYNC2LI1 (D80G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982763	NM_016008.4(DYNC2LI1):c.240T>C (p.Asp80=)	DYNC2LI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905299	NM_016008.4(DYNC2LI1):c.241A>G (p.Ile81Val)	DYNC2LI1 (I81V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904085	NM_016008.4(DYNC2LI1):c.243C>T (p.Ile81=)	DYNC2LI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1568564	NM_016008.4(DYNC2LI1):c.243C>A (p.Ile81=)	DYNC2LI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1981143	NM_016008.4(DYNC2LI1):c.249C>T (p.His83=)	DYNC2LI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1592942	NM_016008.4(DYNC2LI1):c.261C>T (p.Leu87=)	DYNC2LI1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1477418	NM_016008.4(DYNC2LI1):c.262G>A (p.Gly88Ser)	DYNC2LI1 (G88S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 716068	NM_016008.4(DYNC2LI1):c.284A>C (p.Asp95Ala)	DYNC2LI1 (D95A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2030462	NM_016008.4(DYNC2LI1):c.318dup (p.Arg107fs)	DYNC2LI1 (R107fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2961218	NM_016008.4(DYNC2LI1):c.320+12A>G	DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960358	NM_016008.4(DYNC2LI1):c.320+20G>A	DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253352	NM_016008.4(DYNC2LI1):c.320+25C>G	DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221962	NM_016008.4(DYNC2LI1):c.321-189A>G	DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294802	NM_016008.4(DYNC2LI1):c.321-40T>C	DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3086549	NM_016008.4(DYNC2LI1):c.323C>T (p.Thr108Met)	DYNC2LI1 (T108M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 753944	NM_016008.4(DYNC2LI1):c.324G>A (p.Thr108=)	DYNC2LI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2441079	NM_016008.4(DYNC2LI1):c.326T>A (p.Phe109Tyr)	DYNC2LI1 (F109Y)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 15 with polydactyly	GUncertain significance
Select item 3086550	NM_016008.4(DYNC2LI1):c.334G>C (p.Val112Leu)	DYNC2LI1 (V112L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528727	NM_016008.4(DYNC2LI1):c.340G>A (p.Val114Ile)	DYNC2LI1 (V114I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 212765	NM_016008.4(DYNC2LI1):c.349C>G (p.Leu117Val)	DYNC2LI1 (L117V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 753922	NM_016008.4(DYNC2LI1):c.363T>C (p.Asn121=)	DYNC2LI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1367833	NM_016008.4(DYNC2LI1):c.365A>G (p.Asp122Gly)	DYNC2LI1 (D122G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 212766	NM_016008.4(DYNC2LI1):c.372G>A (p.Trp124Ter)	DYNC2LI1 (W124*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 764830	NM_016008.4(DYNC2LI1):c.389T>C (p.Leu130Pro)	DYNC2LI1 (L130P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 446696	NM_016008.4(DYNC2LI1):c.394C>A (p.Gln132Lys)	DYNC2LI1 (Q132K)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 6 with or without polydactyly	GConflicting classifications of pathogenicity
Select item 727228	NM_016008.4(DYNC2LI1):c.401C>T (p.Thr134Ile)	DYNC2LI1 (T134I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2002900	NM_016008.4(DYNC2LI1):c.408C>G (p.Ser136Arg)	DYNC2LI1 (S136R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901855	NM_016008.4(DYNC2LI1):c.411T>G (p.His137Gln)	DYNC2LI1 (H137Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118138	NM_016008.4(DYNC2LI1):c.413T>C (p.Val138Ala)	DYNC2LI1 (V138A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 518438	NM_016008.4(DYNC2LI1):c.420del (p.Lys140_Val141insTer)	DYNC2LI1	Deletion (frameshift variant)	Short-rib thoracic dysplasia 15 with polydactyly	GPathogenic
Select item 1530096	NM_016008.4(DYNC2LI1):c.447T>C (p.Asn149=)	DYNC2LI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2470240	NM_016008.4(DYNC2LI1):c.451A>G (p.Lys151Glu)	DYNC2LI1 (K151E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 788955	NM_016008.4(DYNC2LI1):c.491T>C (p.Met164Thr)	DYNC2LI1 (M164T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1402869	NM_016008.4(DYNC2LI1):c.494C>T (p.Pro165Leu)	DYNC2LI1 (P165L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054569	NM_016008.4(DYNC2LI1):c.495G>A (p.Pro165=)	DYNC2LI1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2070590	NM_016008.4(DYNC2LI1):c.507+5G>A	DYNC2LI1 (S171N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1902861	NM_016008.4(DYNC2LI1):c.507+16G>C	DYNC2LI1 (G175R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1223966	NM_016008.4(DYNC2LI1):c.507+44T>A	DYNC2LI1 (F184Y)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1241345	NM_016008.4(DYNC2LI1):c.507+310A>G	DYNC2LI1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1243451	NM_016008.4(DYNC2LI1):c.508-59T>C	DYNC2LI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 594405	NM_016008.4(DYNC2LI1):c.508-4G>A	DYNC2LI1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 711797	NM_016008.4(DYNC2LI1):c.514G>A (p.Glu172Lys)	DYNC2LI1 (E172K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2300954	NM_016008.4(DYNC2LI1):c.521T>C (p.Ile174Thr)	DYNC2LI1 (I174T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2126866	NM_016008.4(DYNC2LI1):c.527C>T (p.Pro176Leu)	DYNC2LI1 (P176L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 771331	NM_016008.4(DYNC2LI1):c.533C>T (p.Pro178Leu)	DYNC2LI1 (P179L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1510100	NM_016008.4(DYNC2LI1):c.534G>A (p.Pro178=)	DYNC2LI1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1564649	NM_016008.4(DYNC2LI1):c.537A>G (p.Val179=)	DYNC2LI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 753976	NM_016008.4(DYNC2LI1):c.546C>T (p.Val182=)	DYNC2LI1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2501326	NM_016008.4(DYNC2LI1):c.551T>C (p.Ile184Thr)	DYNC2LI1 (I184T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2830759	NM_016008.4(DYNC2LI1):c.564T>C (p.Tyr188=)	DYNC2LI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1467127	NM_016008.4(DYNC2LI1):c.566A>G (p.Asp189Gly)	DYNC2LI1 (D189G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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