9787[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
Select item 1513505	NM_005733.3(KIF20A):c.1A>G (p.Met1Val)	KIF20A (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2719225	NM_005733.3(KIF20A):c.4T>G (p.Ser2Ala)	KIF20A (S2A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1620314	NM_005733.3(KIF20A):c.6G>T (p.Ser2=)	KIF20A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803137	NM_005733.3(KIF20A):c.10G>C (p.Gly4Arg)	KIF20A (G4R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812519	NM_005733.3(KIF20A):c.12G>T (p.Gly4=)	KIF20A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1437136	NM_005733.3(KIF20A):c.23C>T (p.Pro8Leu)	KIF20A (P8L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1596525	NM_005733.3(KIF20A):c.24G>C (p.Pro8=)	KIF20A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1528373	NM_005733.3(KIF20A):c.24G>A (p.Pro8=)	KIF20A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2989467	NM_005733.3(KIF20A):c.30G>A (p.Ala10=)	KIF20A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2700929	NM_005733.3(KIF20A):c.38T>C (p.Leu13Pro)	KIF20A (L13P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937950	NM_005733.3(KIF20A):c.90T>G (p.Asp30Glu)	KIF20A (D30E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1506460	NM_005733.3(KIF20A):c.106C>T (p.Arg36Cys)	KIF20A (R36C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2861145	NM_005733.3(KIF20A):c.122C>T (p.Ser41Leu)	KIF20A (S41L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 776591	NM_005733.3(KIF20A):c.131C>T (p.Ser44Phe)	KIF20A (S44F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3001224	NM_005733.3(KIF20A):c.135C>T (p.Val45=)	KIF20A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976369	NM_005733.3(KIF20A):c.139T>C (p.Ser47Pro)	KIF20A (S47P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070415	NM_005733.3(KIF20A):c.141T>C (p.Ser47=)	KIF20A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2269607	NM_005733.3(KIF20A):c.142A>G (p.Thr48Ala)	KIF20A (T48A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2755590	NM_005733.3(KIF20A):c.146C>T (p.Ser49Phe)	KIF20A (S49F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815378	NM_005733.3(KIF20A):c.165+12G>T	KIF20A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1934513	NM_005733.3(KIF20A):c.165+13G>A	KIF20A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 146377	GRCh38/hg38 5q31.2(chr5:138179894-139039890)x3	CDC23, CDC25C +49 more	Copy number gain	See cases	GUncertain significance
Select item 2128701	NM_005733.3(KIF20A):c.166-17C>G	KIF20A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1361393	NM_005733.3(KIF20A):c.166-13G>T	KIF20A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1977144	NM_005733.3(KIF20A):c.168T>C (p.Val56=)	KIF20A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2129193	NM_005733.3(KIF20A):c.169C>G (p.Pro57Ala)	KIF20A (P57A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 708339	NM_005733.3(KIF20A):c.187G>A (p.Glu63Lys)	KIF20A (E63K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3114594	NM_005733.3(KIF20A):c.191A>T (p.Lys64Met)	KIF20A (K64M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2781604	NM_005733.3(KIF20A):c.199G>T (p.Val67Leu)	KIF20A (V67L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2024479	NM_005733.3(KIF20A):c.222G>C (p.Leu74Phe)	KIF20A (L74F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982638	NM_005733.3(KIF20A):c.241C>T (p.Arg81Ter)	KIF20A (R81*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2062196	NM_005733.3(KIF20A):c.242G>A (p.Arg81Gln)	KIF20A (R81Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1962806	NM_005733.3(KIF20A):c.255+1G>A	KIF20A	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1674522	NM_005733.3(KIF20A):c.255+6dup	KIF20A	Duplication (intron variant)	not provided	GLikely benign
Select item 3021572	NM_005733.3(KIF20A):c.255+7G>A	KIF20A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1998073	NM_005733.3(KIF20A):c.255+12A>G	KIF20A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920603	NM_005733.3(KIF20A):c.256-18T>A	KIF20A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1579704	NM_005733.3(KIF20A):c.265C>T (p.Arg89Cys)	KIF20A (R89C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1365302	NM_005733.3(KIF20A):c.266G>A (p.Arg89His)	KIF20A (R89H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2707237	NM_005733.3(KIF20A):c.279G>T (p.Val93=)	KIF20A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2066638	NM_005733.3(KIF20A):c.284C>T (p.Thr95Ile)	KIF20A (T95I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1938887	NM_005733.3(KIF20A):c.286C>T (p.Leu96Phe)	KIF20A (L96F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1655678	NM_005733.3(KIF20A):c.312T>G (p.Ser104=)	KIF20A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2991524	NM_005733.3(KIF20A):c.316G>T (p.Ala106Ser)	KIF20A (A106S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2728355	NM_005733.3(KIF20A):c.318C>G (p.Ala106=)	KIF20A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712429	NM_005733.3(KIF20A):c.329A>G (p.Asn110Ser)	KIF20A (N110S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1990888	NM_005733.3(KIF20A):c.330T>C (p.Asn110=)	KIF20A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969960	NM_005733.3(KIF20A):c.334C>T (p.Arg112Trp)	KIF20A (R112W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1387559	NM_005733.3(KIF20A):c.334C>G (p.Arg112Gly)	KIF20A (R112G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466856	NM_005733.3(KIF20A):c.335G>A (p.Arg112Gln)	KIF20A (R112Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1517650	NM_005733.3(KIF20A):c.341T>C (p.Ile114Thr)	KIF20A (I114T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978163	NM_005733.3(KIF20A):c.346C>T (p.Gln116Ter)	KIF20A (Q116*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1607373	NM_005733.3(KIF20A):c.351C>T (p.Ala117=)	KIF20A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1947142	NM_005733.3(KIF20A):c.366C>T (p.Thr122=)	KIF20A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2172148	NM_005733.3(KIF20A):c.373C>A (p.Gln125Lys)	KIF20A (Q125K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093780	NM_005733.3(KIF20A):c.375+1G>C	KIF20A	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2806949	NM_005733.3(KIF20A):c.375+19del	KIF20A	Deletion (intron variant)	not provided	GLikely benign
Select item 1926623	NM_005733.3(KIF20A):c.376-16C>A	KIF20A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1664049	NM_005733.3(KIF20A):c.376-16C>T	KIF20A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971810	NM_005733.3(KIF20A):c.376-14G>T	KIF20A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1986986	NM_005733.3(KIF20A):c.377T>A (p.Ile126Asn)	KIF20A (I126N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2166153	NM_005733.3(KIF20A):c.385C>T (p.Pro129Ser)	KIF20A (P129S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2118753	NM_005733.3(KIF20A):c.398A>G (p.Gln133Arg)	KIF20A (Q133R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2113529	NM_005733.3(KIF20A):c.400G>C (p.Ala134Pro)	KIF20A (A134P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1642149	NM_005733.3(KIF20A):c.405C>T (p.Ser135=)	KIF20A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1582845	NM_005733.3(KIF20A):c.420T>C (p.Thr140=)	KIF20A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1927659	NM_005733.3(KIF20A):c.431T>C (p.Met144Thr)	KIF20A (M144T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1409715	NM_005733.3(KIF20A):c.439G>A (p.Asp147Asn)	KIF20A (D147N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950022	NM_005733.3(KIF20A):c.442G>A (p.Val148Ile)	KIF20A (V148I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866890	NM_005733.3(KIF20A):c.454_479dup (p.Val161fs)	KIF20A (V161fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1418696	NM_005733.3(KIF20A):c.472A>T (p.Thr158Ser)	KIF20A (T158S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997221	NM_005733.3(KIF20A):c.475T>A (p.Tyr159Asn)	KIF20A (Y159N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933823	NM_005733.3(KIF20A):c.506C>T (p.Thr169Met)	KIF20A (T169M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2741751	NM_005733.3(KIF20A):c.514+5G>A	KIF20A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1650907	NM_005733.3(KIF20A):c.514+19C>T	KIF20A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1925663	NM_005733.3(KIF20A):c.514+20G>A	KIF20A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1535121	NM_005733.3(KIF20A):c.515-17C>T	KIF20A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1903332	NM_005733.3(KIF20A):c.535A>G (p.Ile179Val)	KIF20A (I179V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2746155	NM_005733.3(KIF20A):c.538C>A (p.Leu180Ile)	KIF20A (L180I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977898	NM_005733.3(KIF20A):c.540C>T (p.Leu180=)	KIF20A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1179002	NM_005733.3(KIF20A):c.544C>T (p.Arg182Trp)	KIF20A (R182W)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial restrictive, 6	GPathogenic
Select item 2759414	NM_005733.3(KIF20A):c.545G>A (p.Arg182Gln)	KIF20A (R182Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1965945	NM_005733.3(KIF20A):c.546G>A (p.Arg182=)	KIF20A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893094	NM_005733.3(KIF20A):c.554C>T (p.Ala185Val)	KIF20A (A185V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2373131	NM_005733.3(KIF20A):c.566A>G (p.Asn189Ser)	KIF20A (N189S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2959708	NM_005733.3(KIF20A):c.569G>T (p.Ser190Ile)	KIF20A (S190I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2464532	NM_005733.3(KIF20A):c.569G>A (p.Ser190Asn)	KIF20A (S190N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3288494	NM_005733.3(KIF20A):c.571C>A (p.Leu191Ile)	KIF20A (L191I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1477361	NM_005733.3(KIF20A):c.572T>C (p.Leu191Pro)	KIF20A (L191P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1915679	NM_005733.3(KIF20A):c.593C>T (p.Thr198Ile)	KIF20A (T198I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1365821	NM_005733.3(KIF20A):c.598G>C (p.Asp200His)	KIF20A (D200H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1914817	NM_005733.3(KIF20A):c.644A>G (p.Lys215Arg)	KIF20A (K215R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190173	NM_005733.3(KIF20A):c.652C>T (p.Arg218Ter)	KIF20A (R218*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1979939	NM_005733.3(KIF20A):c.653G>A (p.Arg218Gln)	KIF20A (R218Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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