21155[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 101

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 146907	GRCh38/hg38 6p24.1-22.3(chr6:13311519-16295560)x3	CD83, DTNBP1 +177 more	Copy number gain	See cases	GPathogenic
Select item 148200	GRCh38/hg38 6p23-22.3(chr6:14730556-17554091)x1	LOC129995876, LOC129995877 +135 more	Copy number loss	See cases	GLikely pathogenic
Select item 152197	GRCh38/hg38 6p23-22.3(chr6:14958760-18580908)x3	ATXN1, ATXN1-AS1 +162 more	Copy number gain	See cases	GUncertain significance
Select item 1432929	NM_013262.4(MYLIP):c.50T>C (p.Val17Ala)	LOC129995898, MYLIP (V17A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2624221	NM_013262.4(MYLIP):c.56C>A (p.Ala19Glu)	LOC129995898, MYLIP (A19E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2963919	NM_013262.4(MYLIP):c.87+2T>C	LOC129995898, MYLIP	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1534641	NM_013262.4(MYLIP):c.151G>A (p.Gly51Ser)	MYLIP (G51S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2801851	NM_013262.4(MYLIP):c.196A>T (p.Met66Leu)	MYLIP (M66L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3297584	NM_013262.4(MYLIP):c.254A>G (p.His85Arg)	MYLIP (H85R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3023293	NM_013262.4(MYLIP):c.308C>A (p.Ala103Asp)	MYLIP (A103D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1608155	NM_013262.4(MYLIP):c.342G>A (p.Glu114=)	MYLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2411561	NM_013262.4(MYLIP):c.361G>T (p.Ala121Ser)	MYLIP (A121S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2791366	NM_013262.4(MYLIP):c.376A>T (p.Thr126Ser)	MYLIP (T126S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2556818	NM_013262.4(MYLIP):c.380A>T (p.Lys127Met)	MYLIP (K127M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613192	NM_013262.4(MYLIP):c.384T>G (p.Phe128Leu)	MYLIP (F128L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2184968	NM_013262.4(MYLIP):c.464+9G>A	MYLIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1424428	NM_013262.4(MYLIP):c.465-3C>T	MYLIP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2371311	NM_013262.4(MYLIP):c.466A>G (p.Ile156Val)	MYLIP (I156V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1567048	NM_013262.4(MYLIP):c.540G>A (p.Ser180=)	MYLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696994	NM_013262.4(MYLIP):c.542C>T (p.Ala181Val)	MYLIP (A181V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2227304	NM_013262.4(MYLIP):c.551A>T (p.Asn184Ile)	MYLIP (N184I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1917239	NM_013262.4(MYLIP):c.563A>G (p.Glu188Gly)	MYLIP (E188G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2602643	NM_013262.4(MYLIP):c.574G>A (p.Val192Met)	MYLIP (V192M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1357496	NM_013262.4(MYLIP):c.577C>T (p.Arg193Trp)	MYLIP (R193W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3297585	NM_013262.4(MYLIP):c.602T>A (p.Leu201His)	MYLIP (L201H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1599503	NM_013262.4(MYLIP):c.604A>C (p.Ile202Leu)	MYLIP (I202L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2855571	NM_013262.4(MYLIP):c.651C>G (p.Ser217Arg)	MYLIP (S217R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2311705	NM_013262.4(MYLIP):c.685A>G (p.Met229Val)	MYLIP (M229V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159716	NM_013262.4(MYLIP):c.686T>C (p.Met229Thr)	MYLIP (M229T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159721	NM_013262.4(MYLIP):c.694C>A (p.Gln232Lys)	MYLIP (Q232K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297586	NM_013262.4(MYLIP):c.712T>C (p.Tyr238His)	MYLIP (Y238H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2889717	NM_013262.4(MYLIP):c.719C>T (p.Thr240Met)	MYLIP (T240M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984017	NM_013262.4(MYLIP):c.720G>A (p.Thr240=)	MYLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3054456	NM_013262.4(MYLIP):c.721G>A (p.Val241Ile)	MYLIP (V241I)	Single nucleotide variant (missense variant)	MYLIP-related disorder	GUncertain significance
Select item 2729114	NM_013262.4(MYLIP):c.786C>T (p.Ser262=)	MYLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1661853	NM_013262.4(MYLIP):c.813G>A (p.Thr271=)	MYLIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1956789	NM_013262.4(MYLIP):c.827+11C>A	MYLIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964483	NM_013262.4(MYLIP):c.828-20T>A	MYLIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3297583	NM_013262.4(MYLIP):c.850G>A (p.Val284Met)	MYLIP (V284M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367101	NM_013262.4(MYLIP):c.868C>T (p.Arg290Cys)	MYLIP (R290C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250311	NM_013262.4(MYLIP):c.918C>A (p.Asn306Lys)	MYLIP (N306K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2502205	NM_013262.4(MYLIP):c.973del (p.His325fs)	MYLIP (H325fs)	Deletion (frameshift variant)	Coronary artery atherosclerosis	GUncertain significance
Select item 2607937	NM_013262.4(MYLIP):c.984G>T (p.Arg328Ser)	MYLIP (R328S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2120880	NM_013262.4(MYLIP):c.994A>G (p.Asn332Asp)	MYLIP (N332D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2383102	NM_013262.4(MYLIP):c.1003G>A (p.Val335Ile)	MYLIP (V335I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1555336	NM_013262.4(MYLIP):c.1014C>T (p.Leu338=)	MYLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1648384	NM_013262.4(MYLIP):c.1015G>A (p.Val339Ile)	MYLIP (V339I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1598643	NM_013262.4(MYLIP):c.1025A>G (p.Asn342Ser)	MYLIP (N342S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2256076	NM_013262.4(MYLIP):c.1033A>G (p.Ser345Gly)	MYLIP (S345G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2888862	NM_013262.4(MYLIP):c.1046C>T (p.Ser349Leu)	MYLIP (S349L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1346372	NM_013262.4(MYLIP):c.1060T>C (p.Ser354Pro)	MYLIP (S354P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999650	NM_013262.4(MYLIP):c.1072A>G (p.Met358Val)	MYLIP (M358V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2694273	NM_013262.4(MYLIP):c.1083C>T (p.Ser361=)	MYLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2726446	NM_013262.4(MYLIP):c.1089C>T (p.Cys363=)	MYLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2203061	NM_013262.4(MYLIP):c.1090G>A (p.Glu364Lys)	MYLIP (E364K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070716	NM_013262.4(MYLIP):c.1095C>T (p.Gly365=)	MYLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175583	NM_013262.4(MYLIP):c.1114C>T (p.Arg372Trp)	MYLIP (R372W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2051024	NM_013262.4(MYLIP):c.1119G>A (p.Val373=)	MYLIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3010336	NM_013262.4(MYLIP):c.1131G>A (p.Lys377=)	MYLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858368	NM_013262.4(MYLIP):c.1137C>G (p.Arg379=)	MYLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1601611	NM_013262.4(MYLIP):c.1173C>T (p.Cys391=)	MYLIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2962163	NM_013262.4(MYLIP):c.1174G>A (p.Glu392Lys)	MYLIP (E392K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3159681	NM_013262.4(MYLIP):c.1225G>A (p.Glu409Lys)	MYLIP (E409K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2707804	NM_013262.4(MYLIP):c.1233C>T (p.Cys411=)	MYLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1432108	NM_013262.4(MYLIP):c.1234G>A (p.Ala412Thr)	MYLIP (A412T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015509	NM_013262.4(MYLIP):c.1236C>T (p.Ala412=)	MYLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2371675	NM_013262.4(MYLIP):c.1237G>A (p.Ala413Thr)	MYLIP (A413T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2796821	NM_013262.4(MYLIP):c.1248+4G>C	MYLIP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2972612	NM_013262.4(MYLIP):c.1248+16G>A	MYLIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1552903	NM_013262.4(MYLIP):c.1249-19G>T	MYLIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1487083	NM_013262.4(MYLIP):c.1258G>A (p.Val420Ile)	MYLIP (V420I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3159692	NM_013262.4(MYLIP):c.1268C>T (p.Ser423Leu)	MYLIP (S423L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2883331	NM_013262.4(MYLIP):c.1269G>A (p.Ser423=)	MYLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018498	NM_013262.4(MYLIP):c.1270C>T (p.Arg424Cys)	MYLIP (R424C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2381652	NM_013262.4(MYLIP):c.1271G>T (p.Arg424Leu)	MYLIP (R424L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283954	NM_013262.4(MYLIP):c.1273G>A (p.Val425Met)	MYLIP (V425M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2417686	NM_013262.4(MYLIP):c.1290C>T (p.His430=)	MYLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1557298	NM_013262.4(MYLIP):c.1305G>A (p.Thr435=)	MYLIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747474	NM_013262.4(MYLIP):c.1333A>G (p.Ile445Val)	MYLIP (I445V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3062894	GRCh37/hg19 6p24.1-22.3(chr6:12872219-17276508)x1	ATXN1, CD83 +13 more	Copy number loss	not specified	GPathogenic
Select item 2427022	NC_000006.11:g.(?_15523206)_(16146982_?)del	DTNBP1, MYLIP	Deletion	not provided	GPathogenic
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1809386	GRCh37/hg19 6p24.1-22.3(chr6:12005630-22849647)x1	ATXN1, CAP2 +32 more	Copy number loss	not provided	GPathogenic
Select item 1527220	GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)	RBM24, RNF182 +35 more	Copy number gain	not specified	GLikely pathogenic
Select item 1064349	NC_000006.11:g.(?_15523206)_(16146982_?)dup	DTNBP1, MYLIP	Duplication	not provided	GUncertain significance
Select item 689105	GRCh37/hg19 6p24.1-22.3(chr6:13248587-18083552)x3	ATXN1, CAP2 +18 more	Copy number gain	not provided	GUncertain significance
Select item 688349	GRCh37/hg19 6p23-22.3(chr6:14715955-17223929)x3	ATXN1, DTNBP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 688193	GRCh37/hg19 6p23-22.3(chr6:13910125-22000204)x1	ATXN1, CAP2 +21 more	Copy number loss	not provided	GPathogenic
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442457	GRCh37/hg19 6p23-22.3(chr6:13693852-24225515)x1	ATXN1, CAP2 +27 more	Copy number loss	See cases	GPathogenic
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2