"GeneDx"[submitter] AND "MKKS"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145966	GRCh38/hg38 20p12.3-12.1(chr20:6617695-13392559)x1	ANKEF1, BMP2 +109 more	Copy number loss	See cases	GPathogenic
Select item 58946	GRCh38/hg38 20p12.3-12.2(chr20:7566644-11028694)x1	ANKEF1, HAO1 +71 more	Copy number loss	See cases	GPathogenic
Select item 146031	GRCh38/hg38 20p12.2-12.1(chr20:9550975-12083434)x1	ANKEF1, BTBD3 +55 more	Copy number loss	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 261058	NM_170784.3(MKKS):c.*46G>T	MKKS	Single nucleotide variant (3 prime UTR variant +1 more)	McKusick-Kaufman syndrome +3 more	GBenign/Likely benign
Select item 261057	NM_170784.3(MKKS):c.*38A>G	MKKS	Single nucleotide variant (3 prime UTR variant +1 more)	McKusick-Kaufman syndrome +3 more	GBenign/Likely benign
Select item 1030676	NM_170784.3(MKKS):c.1625T>G (p.Leu542Trp)	MKKS (L542W)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 6 +3 more	GUncertain significance
Select item 95923	NM_170784.3(MKKS):c.1595G>T (p.Gly532Val)	MKKS (G532V)	Single nucleotide variant (missense variant +1 more)	McKusick-Kaufman syndrome +4 more	GBenign/Likely benign
Select item 95922	NM_170784.3(MKKS):c.1549C>T (p.Arg517Cys)	MKKS (R517C)	Single nucleotide variant (missense variant +1 more)	McKusick-Kaufman syndrome +4 more	GBenign
Select item 261059	NM_170784.3(MKKS):c.1462G>A (p.Ala488Thr)	MKKS (A488T)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 1419303	NM_170784.3(MKKS):c.1457G>A (p.Cys486Tyr)	MKKS (C486Y)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 852022	NM_170784.3(MKKS):c.1363G>A (p.Glu455Lys)	MKKS (E455K)	Single nucleotide variant (missense variant +1 more)	McKusick-Kaufman syndrome +3 more	GUncertain significance
Select item 1878893	NM_170784.3(MKKS):c.1328T>C (p.Leu443Pro)	MKKS (L443P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 962475	NM_170784.3(MKKS):c.1318C>G (p.Gln440Glu)	MKKS (Q440E)	Single nucleotide variant (missense variant +1 more)	McKusick-Kaufman syndrome +3 more	GUncertain significance
Select item 435872	NM_170784.3(MKKS):c.1313G>A (p.Cys438Tyr)	MKKS (C438Y)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 897429	NM_170784.3(MKKS):c.1307A>G (p.Asp436Gly)	MKKS (D436G)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +4 more	GUncertain significance
Select item 1206515	NM_170784.3(MKKS):c.1273-165G>A	MKKS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207801	NM_170784.3(MKKS):c.1273-204A>G	MKKS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266820	NM_170784.3(MKKS):c.1272+194G>A	MKKS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220849	NM_170784.3(MKKS):c.1162-132C>T	MKKS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219480	NM_170784.3(MKKS):c.1162-218C>T	MKKS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706818	NM_170784.3(MKKS):c.1161+150T>G	MKKS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267220	NM_170784.3(MKKS):c.1161+58A>G	MKKS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 419200	NM_170784.3(MKKS):c.1070_1071delinsAA (p.Ser357Ter)	MKKS (S357*)	Indel (nonsense +1 more)	not provided	GPathogenic
Select item 100586	NM_170784.3(MKKS):c.1015A>G (p.Ile339Val)	MKKS (I339V)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 6 +4 more	GConflicting classifications of pathogenicity
Select item 261061	NM_170784.3(MKKS):c.986-29A>T	MKKS	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1198075	NM_170784.3(MKKS):c.986-230A>C	MKKS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 261060	NM_170784.3(MKKS):c.985+33G>C	MKKS	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 196492	NM_170784.3(MKKS):c.985+16T>G	MKKS	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 432198	NM_170784.3(MKKS):c.862G>A (p.Val288Ile)	MKKS (V288I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 5314	NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)	MKKS (L277P)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +4 more	GPathogenic/Likely pathogenic
Select item 463179	NM_170784.3(MKKS):c.757T>C (p.Ser253Pro)	MKKS (S253P)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 962801	NM_170784.3(MKKS):c.748G>A (p.Gly250Arg)	MKKS (G250R)	Single nucleotide variant (missense variant)	McKusick-Kaufman syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2075476	NM_170784.3(MKKS):c.659T>C (p.Ile220Thr)	MKKS (I220T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 21671	NM_170784.3(MKKS):c.534C>T (p.Ile178=)	MKKS	Single nucleotide variant (synonymous variant)	McKusick-Kaufman syndrome +4 more	GBenign
Select item 337692	NM_170784.3(MKKS):c.463C>T (p.Arg155Cys)	MKKS (R155C)	Single nucleotide variant (missense variant)	MKKS-related disorder +5 more	GUncertain significance
Select item 478890	NM_170784.3(MKKS):c.250C>T (p.His84Tyr)	MKKS (H84Y)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 5316	NM_170784.3(MKKS):c.169A>G (p.Thr57Ala)	MKKS (T57A)	Single nucleotide variant (missense variant)	McKusick-Kaufman syndrome +3 more	GPathogenic/Likely pathogenic
Select item 21669	NM_170784.3(MKKS):c.117C>T (p.Pro39=)	MKKS	Single nucleotide variant (synonymous variant)	McKusick-Kaufman syndrome +4 more	GBenign
Select item 5309	NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)	MKKS (Y37C)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +5 more	GPathogenic/Likely pathogenic
Select item 2575649	NM_170784.3(MKKS):c.26C>T (p.Pro9Leu)	MKKS (P9L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 414069	NM_170784.3(MKKS):c.16G>A (p.Ala6Thr)	MKKS (A6T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 695968	NM_170784.3(MKKS):c.15A>G (p.Glu5=)	MKKS	Single nucleotide variant (synonymous variant)	McKusick-Kaufman syndrome +3 more	GConflicting classifications of pathogenicity
Select item 955812	NM_170784.3(MKKS):c.7C>T (p.Arg3Cys)	MKKS (R3C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 337697	NM_170784.3(MKKS):c.-58T>C	MKKS	Single nucleotide variant (5 prime UTR variant)	McKusick-Kaufman syndrome +2 more	GBenign/Likely benign
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic

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Items: 46