KAZALD1[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	ABCC2, ABLIM1 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	LOC126861081, LOC126861082 +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	ABLIM1, ABRAXAS2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 2263238	NM_030929.5(KAZALD1):c.83C>T (p.Thr28Ile)	KAZALD1 (T28I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 781215	NM_030929.5(KAZALD1):c.87C>T (p.Gly29=)	KAZALD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2292445	NM_030929.5(KAZALD1):c.147G>C (p.Glu49Asp)	KAZALD1 (E49D)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376524	NM_030929.5(KAZALD1):c.194G>C (p.Arg65Pro)	KAZALD1 (R65P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 716217	NM_030929.5(KAZALD1):c.211A>T (p.Arg71Trp)	KAZALD1 (R71W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2623027	NM_030929.5(KAZALD1):c.299G>T (p.Gly100Val)	KAZALD1 (G100V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403676	NM_030929.5(KAZALD1):c.316C>T (p.Leu106Phe)	KAZALD1 (L106F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218821	NM_030929.5(KAZALD1):c.320A>C (p.Glu107Ala)	KAZALD1 (E107A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2318391	NM_030929.5(KAZALD1):c.322T>C (p.Cys108Arg)	KAZALD1 (C108R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600044	NM_030929.5(KAZALD1):c.338G>T (p.Gly113Val)	KAZALD1 (G113V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274119	NM_030929.5(KAZALD1):c.352C>T (p.Arg118Cys)	KAZALD1 (R118C)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406227	NM_030929.5(KAZALD1):c.388T>A (p.Ser130Thr)	KAZALD1 (S130T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532612	NM_030929.5(KAZALD1):c.439C>T (p.Arg147Cys)	KAZALD1 (R147C)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544398	NM_030929.5(KAZALD1):c.479T>G (p.Leu160Arg)	KAZALD1 (L160R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280252	NM_030929.5(KAZALD1):c.550G>A (p.Val184Met)	KAZALD1 (V184M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2480871	NM_030929.5(KAZALD1):c.596C>T (p.Pro199Leu)	KAZALD1 (P199L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511677	NM_030929.5(KAZALD1):c.599T>C (p.Met200Thr)	KAZALD1 (M200T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519637	NM_030929.5(KAZALD1):c.610G>C (p.Glu204Gln)	KAZALD1 (E204Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2271529	NM_030929.5(KAZALD1):c.654C>A (p.Asp218Glu)	KAZALD1 (D80E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1330903	NM_030929.5(KAZALD1):c.671A>G (p.Gln224Arg)	KAZALD1 (Q224R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 781216	NM_030929.5(KAZALD1):c.720C>T (p.Ile240=)	KAZALD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2457643	NM_030929.5(KAZALD1):c.731G>A (p.Arg244His)	KAZALD1 (R244H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 773539	NM_030929.5(KAZALD1):c.767G>A (p.Arg256His)	KAZALD1 (R118H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2403942	NM_030929.5(KAZALD1):c.794C>T (p.Pro265Leu)	KAZALD1 (P127L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 739435	NM_030929.5(KAZALD1):c.853C>T (p.Arg285Ter)	KAZALD1 (R147* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 2396229	NM_030929.5(KAZALD1):c.854G>A (p.Arg285Gln)	KAZALD1 (R285Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	ABCC2, ACTR1A +95 more	Duplication	not provided	GUncertain significance
Select item 2423956	NC_000010.10:g.(?_102747968)_(103535657_?)dup	BTRC, DPCD +11 more	Duplication	not provided	GUncertain significance
Select item 625658	GRCh37/hg19 10q24.31-24.32(chr10:102822575-103558868)	BTRC, DPCD +9 more	Copy number gain	Split hand-foot malformation 3	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response

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Items: 43