654[geneid] - ClinVar - NCBI

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	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 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 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 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
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 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	BLOC1S5, BLOC1S5-TXNDC5 +437 more	Copy number gain	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	LOC123575663, LOC123575664 +433 more	Copy number loss	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 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 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	LOC129995677, LOC129995678 +331 more	Copy number loss	See cases	GPathogenic
Select item 58423	GRCh38/hg38 6p25.1-24.3(chr6:4427090-8391140)x1	BLOC1S5, BLOC1S5-TXNDC5 +159 more	Copy number loss	See cases	GPathogenic
Select item 2498183	NC_000006.12:g.7427051ACAA[1]	BMP6	Microsatellite	Neonatal hemochromatosis	GUncertain significance
Select item 2498185	NC_000006.12:g.7673126T>C	BMP6	Single nucleotide variant	Neonatal hemochromatosis	GUncertain significance
Select item 2408245	NM_001718.6(BMP6):c.67G>A (p.Gly23Arg)	BMP6 (G23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058879	NM_001718.6(BMP6):c.83G>A (p.Arg28Gln)	BMP6 (R28Q)	Single nucleotide variant (missense variant)	BMP6-related disorder	GBenign
Select item 3134561	NM_001718.6(BMP6):c.97G>A (p.Ala33Thr)	BMP6 (A33T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243246	NM_001718.6(BMP6):c.169C>T (p.Pro57Ser)	BMP6 (P57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134553	NM_001718.6(BMP6):c.211C>G (p.Leu71Val)	BMP6 (L71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056390	NM_001718.6(BMP6):c.225G>A (p.Glu75=)	BMP6	Single nucleotide variant (synonymous variant)	BMP6-related disorder	GBenign
Select item 3261191	NM_001718.6(BMP6):c.230G>A (p.Arg77Gln)	BMP6 (R77Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559481	NM_001718.6(BMP6):c.239A>C (p.Gln80Pro)	BMP6 (Q80P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134554	NM_001718.6(BMP6):c.265C>T (p.Leu89Phe)	BMP6 (L89F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367395	NM_001718.6(BMP6):c.280C>T (p.Arg94Trp)	BMP6 (R94W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1801214	NM_001718.6(BMP6):c.283C>T (p.Pro95Ser)	BMP6	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2602464	NM_001718.6(BMP6):c.284C>T (p.Pro95Leu)	BMP6 (P95L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1801215	NM_001718.6(BMP6):c.287T>C (p.Leu96Pro)	BMP6	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2297367	NM_001718.6(BMP6):c.289C>T (p.His97Tyr)	BMP6 (H97Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037636	NM_001718.6(BMP6):c.335AGC[8] (p.Gln118_Leu119insGln)	BMP6	Microsatellite	BMP6-related disorder	GBenign
Select item 1801217	NM_001718.6(BMP6):c.334G>C (p.Glu112Gln)	BMP6 (E112Q)	Single nucleotide variant (missense variant)	Iron overload, susceptibility to	Grisk factor
Select item 1801216	NM_001718.6(BMP6):c.337C>G (p.Gln113Glu)	BMP6	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3056089	NM_001718.6(BMP6):c.339G>A (p.Gln113=)	BMP6	Single nucleotide variant (synonymous variant)	BMP6-related disorder	GBenign
Select item 2279589	NM_001718.6(BMP6):c.370C>T (p.Pro124Ser)	BMP6 (P124S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 929751	NM_001718.6(BMP6):c.409C>A (p.Leu137Met)	BMP6 (L137M)	Single nucleotide variant (missense variant)	Premature ovarian failure	GLikely pathogenic
Select item 3134555	NM_001718.6(BMP6):c.427C>G (p.Leu143Val)	BMP6 (L143V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349570	NM_001718.6(BMP6):c.439A>G (p.Asn147Asp)	BMP6 (N147D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2323796	NM_001718.6(BMP6):c.440A>G (p.Asn147Ser)	BMP6 (N147S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134556	NM_001718.6(BMP6):c.450C>G (p.Asp150Glu)	BMP6 (D150E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578994	NM_001718.6(BMP6):c.453G>T (p.Gly151=)	BMP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3134557	NM_001718.6(BMP6):c.455C>A (p.Ala152Glu)	BMP6 (A152E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1801218	NM_001718.6(BMP6):c.472C>T (p.Gln158Ter)	BMP6	Single nucleotide variant (nonsense)	Iron overload, susceptibility to	Grisk factor
Select item 788354	NM_001718.6(BMP6):c.480C>T (p.Ser160=)	BMP6	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3261190	NM_001718.6(BMP6):c.490G>A (p.Glu164Lys)	BMP6 (E164K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544782	NM_001718.6(BMP6):c.526C>G (p.Pro176Ala)	BMP6 (P176A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038597	NM_001718.6(BMP6):c.565G>A (p.Ala189Thr)	BMP6 (A189T)	Single nucleotide variant (missense variant)	BMP6-related disorder	GBenign
Select item 3053296	NM_001718.6(BMP6):c.567C>T (p.Ala189=)	BMP6	Single nucleotide variant (synonymous variant)	BMP6-related disorder	GLikely benign
Select item 2523767	NM_001718.6(BMP6):c.605G>A (p.Ser202Asn)	BMP6 (S202N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299729	NM_001718.6(BMP6):c.605G>C (p.Ser202Thr)	BMP6 (S202T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235839	NM_001718.6(BMP6):c.606C>A (p.Ser202Arg)	BMP6 (S202R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557084	NM_001718.6(BMP6):c.607G>T (p.Ala203Ser)	BMP6 (A203S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049758	NM_001718.6(BMP6):c.612G>A (p.Gln204=)	BMP6	Single nucleotide variant (synonymous variant)	BMP6-related disorder	GLikely benign
Select item 2391850	NM_001718.6(BMP6):c.623T>C (p.Phe208Ser)	BMP6 (F208S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620347	NM_001718.6(BMP6):c.624C>G (p.Phe208Leu)	BMP6 (F208L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134558	NM_001718.6(BMP6):c.626T>C (p.Leu209Pro)	BMP6 (L209P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257569	NM_001718.6(BMP6):c.634_635delinsAT (p.Ala212Met)	BMP6 (A212M)	Indel (missense variant)	not provided	GUncertain significance
Select item 3041229	NM_001718.6(BMP6):c.636G>A (p.Ala212=)	BMP6	Single nucleotide variant (synonymous variant)	BMP6-related disorder	GBenign
Select item 3042905	NM_001718.6(BMP6):c.661C>T (p.Leu221=)	BMP6	Single nucleotide variant (synonymous variant)	BMP6-related disorder	GLikely benign
Select item 3058627	NM_001718.6(BMP6):c.665-3T>C	BMP6	Single nucleotide variant (intron variant)	BMP6-related disorder	GLikely benign
Select item 2248301	NM_001718.6(BMP6):c.670T>G (p.Tyr224Asp)	BMP6 (Y224D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369915	NM_001718.6(BMP6):c.698G>A (p.Arg233Gln)	BMP6 (R233Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1801219	NM_001718.6(BMP6):c.770G>A (p.Arg257His)	BMP6 (R257H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3053293	NM_001718.6(BMP6):c.877T>C (p.Leu293=)	BMP6	Single nucleotide variant (synonymous variant)	BMP6-related disorder	GLikely benign
Select item 2606603	NM_001718.6(BMP6):c.887G>A (p.Arg296His)	BMP6 (R296H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205984	NM_001718.6(BMP6):c.904G>A (p.Glu302Lys)	BMP6 (E302K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245542	NM_001718.6(BMP6):c.932C>T (p.Thr311Met)	BMP6 (T311M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134560	NM_001718.6(BMP6):c.959C>T (p.Thr320Ile)	BMP6 (T320I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607590	NM_001718.6(BMP6):c.1013A>G (p.His338Arg)	BMP6 (H338R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049896	NM_001718.6(BMP6):c.1014C>T (p.His338=)	BMP6	Single nucleotide variant (synonymous variant)	BMP6-related disorder	GBenign
Select item 3037229	NM_001718.6(BMP6):c.1029C>T (p.Ala343=)	BMP6	Single nucleotide variant (synonymous variant)	BMP6-related disorder	GBenign
Select item 2204619	NM_001718.6(BMP6):c.1051G>A (p.Gly351Ser)	BMP6 (G351S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056887	NM_001718.6(BMP6):c.1062C>T (p.Asp354=)	BMP6	Single nucleotide variant (synonymous variant)	BMP6-related disorder	GBenign
Select item 2213320	NM_001718.6(BMP6):c.1098T>G (p.Ser366Arg)	BMP6 (S366R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059297	NM_001718.6(BMP6):c.1104G>C (p.Val368=)	BMP6	Single nucleotide variant (synonymous variant)	BMP6-related disorder	GBenign
Select item 3039734	NM_001718.6(BMP6):c.1107C>T (p.His369=)	BMP6	Single nucleotide variant (synonymous variant)	BMP6-related disorder	GLikely benign
Select item 3134551	NM_001718.6(BMP6):c.1118C>G (p.Thr373Ser)	BMP6 (T373S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352424	NM_001718.6(BMP6):c.1180G>A (p.Val394Met)	BMP6 (V394M)	Single nucleotide variant (missense variant)	BMP6-related disorder	GLikely benign
Select item 3056476	NM_001718.6(BMP6):c.1188G>T (p.Arg396=)	BMP6	Single nucleotide variant (synonymous variant)	BMP6-related disorder	GLikely benign
Select item 3134552	NM_001718.6(BMP6):c.1211A>G (p.Asn404Ser)	BMP6 (N404S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353103	NM_001718.6(BMP6):c.1214G>A (p.Ser405Asn)	BMP6 (S405N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554660	NM_001718.6(BMP6):c.1282G>A (p.Asp428Asn)	BMP6 (D428N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053020	NM_001718.6(BMP6):c.1374C>T (p.His458=)	BMP6	Single nucleotide variant (synonymous variant)	BMP6-related disorder	GLikely benign
Select item 3058673	NM_001718.6(BMP6):c.1392+7T>G	BMP6	Single nucleotide variant (intron variant)	BMP6-related disorder	GLikely benign
Select item 2208396	NM_001718.6(BMP6):c.1411G>A (p.Glu471Lys)	BMP6 (E471K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235050	NM_001718.6(BMP6):c.1460C>T (p.Ser487Leu)	BMP6 (S487L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2673043	NM_001718.6(BMP6):c.1485C>G (p.Ser495=)	BMP6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 2425105	NC_000006.11:g.(?_7542149)_(7880576_?)dup	BMP6, DSP +1 more	Duplication	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
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 980201	GRCh37/hg19 6p25.1-24.3(chr6:6495789-8070987)x3	BLOC1S5, BMP6 +7 more	Copy number gain	not provided	GUncertain significance
Select item 814784	GRCh37/hg19 6p25.1-24.3(chr6:5997521-8570039)x1	BLOC1S5, BMP6 +11 more	Copy number loss	not provided	GPathogenic
Select item 688482	GRCh37/hg19 6p25.1-24.3(chr6:6846861-7759131)x3	BMP6, CAGE1 +5 more	Copy number gain	not provided	GUncertain significance
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 563154	GRCh37/hg19 6p25.1-24.2(chr6:6990611-11276452)x1	BLOC1S5, BMP6 +23 more	Copy number loss	not provided	GPathogenic
Select item 563149	GRCh37/hg19 6p25.1-24.3(chr6:4990661-10358695)x1	BLOC1S5, BMP6 +17 more	Copy number loss	not provided	GPathogenic
Select item 563144	GRCh37/hg19 6p25.3-24.3(chr6:1860928-8884071)x3	BLOC1S5, BMP6 +38 more	Copy number gain	not provided	GLikely pathogenic
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 563139	GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3	ADTRP, BLOC1S5 +66 more	Copy number gain	not provided	GPathogenic

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