ClinVar for Gene (Select 79742) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3344498	NM_176819.4(DIPK2B):c.691G>A (p.Gly231Arg)	DIPK2B (G231R)	Single nucleotide variant (missense variant)	DIPK2B-related disorder	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3235606	NM_176819.4(DIPK2B):c.412A>T (p.Thr138Ser)	DIPK2B (T138S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062564	GRCh37/hg19 Xp11.3(chrX:44815967-45034073)	DIPK2B, KDM6A	Copy number gain	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062475	GRCh37/hg19 Xp11.3(chrX:44815967-45028675)	DIPK2B, KDM6A	Copy number gain	not specified	GUncertain significance
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3059778	NM_176819.4(DIPK2B):c.383G>A (p.Arg128Lys)	DIPK2B (R128K)	Single nucleotide variant (missense variant)	DIPK2B-related disorder	GBenign
Select item 3054407	NM_176819.4(DIPK2B):c.1171G>C (p.Asp391His)	DIPK2B (D391H)	Single nucleotide variant (missense variant)	DIPK2B-related disorder	GLikely benign
Select item 3050838	NM_176819.4(DIPK2B):c.1096C>T (p.Leu366=)	DIPK2B	Single nucleotide variant (synonymous variant)	DIPK2B-related disorder	GLikely benign
Select item 3049454	NM_176819.4(DIPK2B):c.1020C>T (p.Ser340=)	DIPK2B	Single nucleotide variant (synonymous variant)	DIPK2B-related disorder	GLikely benign
Select item 3046016	NM_176819.4(DIPK2B):c.313T>C (p.Ser105Pro)	DIPK2B (S105P)	Single nucleotide variant (missense variant)	DIPK2B-related disorder	GBenign
Select item 3033826	NM_176819.4(DIPK2B):c.428G>T (p.Arg143Leu)	DIPK2B (R143L)	Single nucleotide variant (missense variant)	DIPK2B-related disorder	GBenign
Select item 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2685063	GRCh37/hg19 Xp11.4-11.23(chrX:42046069-46491183)x0	CHST7, DIPK2B +12 more	Copy number loss	not provided	GPathogenic
Select item 2684979	GRCh37/hg19 Xp11.3-11.23(chrX:44663115-48237646)x3	ARAF, CDK16 +33 more	Copy number gain	not provided	GUncertain significance
Select item 2660377	NM_176819.4(DIPK2B):c.133A>C (p.Arg45=)	DIPK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660376	NM_176819.4(DIPK2B):c.499-4G>T	DIPK2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2660375	NM_176819.4(DIPK2B):c.675C>A (p.Ile225=)	DIPK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1808658	GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3	AKAP4, ARAF +126 more	Copy number gain	not provided	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1526795	GRCh37/hg19 Xp11.3(chrX:44864810-45258231)	DIPK2B, KDM6A	Copy number gain	not specified	GUncertain significance
Select item 1526794	GRCh37/hg19 Xp11.3(chrX:44815967-45037328)	DIPK2B, KDM6A	Copy number gain	not specified	GUncertain significance
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 1180516	GRCh37/hg19 Xp11.4-11.3(chrX:42069104-45843277)x1	DIPK2B, DUSP21 +8 more	Copy number loss	not provided	GPathogenic
Select item 1175843	GRCh37/hg19 Xp11.3-11.23(chrX:44879855-46541970)x1	CHST7, DIPK2B +6 more	Copy number loss	not provided	GPathogenic
Select item 992647	GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	ACE2, ACOT9 +309 more	Copy number loss	not provided	GPathogenic
Select item 983193	GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	ACE2, ACOT9 +304 more	Copy number loss	See cases	GPathogenic
Select item 816344	GRCh37/hg19 Xp11.3(chrX:44931762-45166819)x3	KDM6A, DIPK2B	Copy number gain	not provided	GUncertain significance
Select item 816270	GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	ACE2, ACOT9 +305 more	Copy number loss	not provided	GPathogenic
Select item 722221	NM_176819.4(DIPK2B):c.210G>C (p.Lys70Asn)	DIPK2B (K70N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 718331	NM_176819.4(DIPK2B):c.398C>A (p.Ala133Glu)	DIPK2B (A133E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 712302	NM_176819.4(DIPK2B):c.984A>G (p.Ala328=)	DIPK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711138	NM_176819.4(DIPK2B):c.1092G>A (p.Lys364=)	DIPK2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +268 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 688888	GRCh37/hg19 Xp11.3(chrX:44943127-45159770)x2	DIPK2B, KDM6A	Copy number gain	not provided	GUncertain significance
Select item 688716	GRCh37/hg19 Xp11.3(chrX:44809611-45034021)x2	DIPK2B, KDM6A	Copy number gain	not provided	GUncertain significance
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 687847	GRCh37/hg19 Xp11.3(chrX:44687226-45154972)x3	DIPK2B, DUSP21 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685565	GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1	RBBP7, RBM10 +316 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	BEX1, BEX2 +818 more	Copy number gain	not provided	GPathogenic
Select item 684962	GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	ABCB7, AKAP4 +281 more	Copy number loss	not provided	GPathogenic
Select item 638115	GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1	ACE2, ACOT9 +257 more	Copy number loss	See cases	GPathogenic
Select item 635966	Single allele	DIPK2B, DUSP21 +2 more	Deletion	Skeletal dysplasia	GPathogenic
Select item 635934	Single allele	SUPT20HL2, SYAP1 +177 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 626291	Single allele	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 625640	GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622)	ARAF, CCDC120 +64 more	Copy number gain	not provided	GPathogenic
Select item 564837	GRCh37/hg19 Xp11.3(chrX:44815967-45028722)x2	DIPK2B, KDM6A	Copy number gain	not provided	GUncertain significance
Select item 564835	GRCh37/hg19 Xp11.3(chrX:44377449-45147237)x3	DUSP21, FUNDC1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	RPS6KA6, UPRT +413 more	Copy number gain	not provided	GPathogenic
Select item 564696	GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1	ACE2, ACOT9 +170 more	Copy number loss	not provided	GPathogenic
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	AMER1, AMMECR1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 545387	NC_000023.11:g.(?_44209146)_(46109507_?)del	MIR222, MIR222HG +29 more	Deletion	Autism	GLikely pathogenic
Select item 515356	NM_176819.4(DIPK2B):c.499-7C>T	DIPK2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	EIF1AX, EIF2S3 +539 more	Copy number loss	See cases	GPathogenic
Select item 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	PNMA5, PNMA6A +695 more	Copy number loss	See cases	GPathogenic
Select item 443322	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	ACE2, ACOT9 +314 more	Copy number loss	See cases	GPathogenic
Select item 443142	GRCh37/hg19 Xp11.3(chrX:44815967-45034034)x2	DIPK2B, KDM6A	Copy number gain	See cases	GUncertain significance
Select item 443028	GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1	SYN1, SYP +294 more	Copy number loss	See cases	GPathogenic
Select item 442832	GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1	ABCB7, AKAP4 +300 more	Copy number loss	See cases	GPathogenic
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	AP1S2, APEX2 +731 more	Copy number loss	See cases	GPathogenic
Select item 442477	GRCh37/hg19 Xp11.3(chrX:44815967-45034073)x3	DIPK2B, KDM6A	Copy number gain	See cases	GUncertain significance
Select item 442354	GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	ABCB7, ACE2 +390 more	Copy number loss	See cases	GPathogenic
Select item 442224	GRCh37/hg19 Xp11.4-11.23(chrX:41150139-46528262)x1	CASK, CHST7 +17 more	Copy number loss	See cases	GPathogenic
Select item 442162	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1	AP1S2, APEX2 +300 more	Copy number loss	See cases	GPathogenic
Select item 442067	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1	ARSF, XAGE2 +312 more	Copy number loss	See cases	GPathogenic
Select item 441968	GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1	AP1S2, APEX2 +312 more	Copy number loss	See cases	GPathogenic
Select item 441856	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1	WDR45, WNK3 +313 more	Copy number loss	See cases	GPathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	BEX4, BEX5 +566 more	Copy number gain	not provided	GUncertain significance
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	TMLHE, TMSB15A +819 more	Copy number loss	See cases	GPathogenic
Select item 395687	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 395686	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	BEX1, BEX2 +819 more	Copy number gain	See cases	GPathogenic
Select item 395011	GRCh37/hg19 Xp11.4-11.3(chrX:40933552-45379179)x2	CASK, DDX3X +12 more	Copy number gain	See cases	GLikely pathogenic
Select item 394706	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 394672	GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	ABCB7, ADGRG2 +818 more	Copy number loss	See cases	GPathogenic
Select item 394013	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic

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