ClinVar for Gene (Select 55966) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 113

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3279752	NM_018836.4(AJAP1):c.44G>T (p.Arg15Leu)	AJAP1 (R15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279743	NM_018836.4(AJAP1):c.166T>C (p.Ser56Pro)	AJAP1 (S56P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3279733	NM_018836.4(AJAP1):c.1108G>A (p.Asp370Asn)	AJAP1 (D370N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279727	NM_018836.4(AJAP1):c.404C>T (p.Ser135Leu)	AJAP1 (S135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279721	NM_018836.4(AJAP1):c.763C>A (p.Pro255Thr)	AJAP1 (P255T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3103245	NM_018836.4(AJAP1):c.941G>A (p.Arg314His)	AJAP1 (R314H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103236	NM_018836.4(AJAP1):c.792A>T (p.Glu264Asp)	AJAP1 (E264D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103230	NM_018836.4(AJAP1):c.683C>G (p.Pro228Arg)	AJAP1 (P228R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103210	NM_018836.4(AJAP1):c.448G>A (p.Ala150Thr)	AJAP1 (A150T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103207	NM_018836.4(AJAP1):c.425C>T (p.Ala142Val)	AJAP1 (A142V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103204	NM_018836.4(AJAP1):c.398C>T (p.Ser133Leu)	AJAP1 (S133L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103194	NM_018836.4(AJAP1):c.1132G>T (p.Gly378Trp)	AJAP1 (G378W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103191	NM_018836.4(AJAP1):c.1126A>T (p.Thr376Ser)	AJAP1 (T376S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103187	NM_018836.4(AJAP1):c.1124C>T (p.Ser375Leu)	AJAP1 (S375L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063343	GRCh37/hg19 1p36.32-36.23(chr1:4536962-7934520)x1	ACOT7, AJAP1 +23 more	Copy number loss	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 3063066	GRCh37/hg19 1p36.33-36.31(chr1:1959612-5471235)x1	ACTRT2, AJAP1 +27 more	Copy number loss	not specified	GPathogenic
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2610953	NM_018836.4(AJAP1):c.251C>T (p.Pro84Leu)	AJAP1 (P84L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589295	NM_018836.4(AJAP1):c.637A>G (p.Lys213Glu)	AJAP1 (K213E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574677	GRCh37/hg19 1p36.33-36.31(chr1:1957148-6553454)	ACOT7, ACTRT2 +40 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2570762	GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1	ACAP3, ACTRT2 +79 more	Copy number loss	not provided	GPathogenic
Select item 2553753	NM_018836.4(AJAP1):c.824C>T (p.Ala275Val)	AJAP1 (A275V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529900	NM_018836.4(AJAP1):c.367G>A (p.Ala123Thr)	AJAP1 (A123T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484041	NM_018836.4(AJAP1):c.778A>G (p.Ser260Gly)	AJAP1 (S260G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2398686	NM_018836.4(AJAP1):c.163C>T (p.Arg55Trp)	AJAP1 (R55W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390901	NM_018836.4(AJAP1):c.293C>T (p.Ala98Val)	AJAP1 (A98V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344638	NM_018836.4(AJAP1):c.583A>G (p.Asn195Asp)	AJAP1 (N195D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336034	NM_018836.4(AJAP1):c.848T>A (p.Ile283Asn)	AJAP1 (I283N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331414	NM_018836.4(AJAP1):c.254G>T (p.Arg85Leu)	AJAP1 (R85L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256850	NM_018836.4(AJAP1):c.568G>A (p.Glu190Lys)	AJAP1 (E190K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244425	NM_018836.4(AJAP1):c.634C>T (p.Arg212Trp)	AJAP1 (R212W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211904	NM_018836.4(AJAP1):c.1181G>A (p.Arg394Gln)	AJAP1 (R394Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211163	NM_018836.4(AJAP1):c.498C>G (p.Ser166Arg)	AJAP1 (S166R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209606	NM_018836.4(AJAP1):c.516C>G (p.Ser172Arg)	AJAP1 (S172R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205004	NM_018836.4(AJAP1):c.458G>T (p.Arg153Met)	AJAP1 (R153M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808734	GRCh37/hg19 1p36.33-36.32(chr1:2173570-5023430)x1	ACTRT2, AJAP1 +24 more	Copy number loss	not provided	GPathogenic
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1808375	GRCh37/hg19 1p36.33-36.32(chr1:2194087-4738355)x3	C1orf174, ACTRT2 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1703629	GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	GPR157, H6PD +124 more	Copy number loss	Chromosome 1p36 deletion syndrome, proximal	GPathogenic
Select item 1703627	GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)	TNFRSF18, TNFRSF4 +77 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1341993	GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1	DNAJC11, DVL1 +101 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 1177499	GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1	SMIM1, ZBTB48 +47 more	Copy number loss	Chromosome 1p36 deletion syndrome	Gnot provided
Select item 1047438	NC_000001.10:g.(?_4715486)_(6012896_?)dup	AJAP1, NPHP4	Duplication	Nephronophthisis	GUncertain significance
Select item 980940	GRCh37/hg19 1p36.33-36.31(chr1:1-5592835)x1	ACAP3, ACTRT2 +80 more	Copy number loss	not provided	GPathogenic
Select item 976729	GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686)	PUSL1, RER1 +98 more	Copy number loss	Harel-Yoon syndrome	GLikely pathogenic
Select item 814048	GRCh37/hg19 1p36.33-36.32(chr1:849466-4829059)x1	ACAP3, ACTRT2 +77 more	Copy number loss	not provided	GPathogenic
Select item 814047	GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)x1	ACAP3, ACTRT2 +77 more	Copy number loss	not provided	GPathogenic
Select item 814046	GRCh37/hg19 1p36.33-36.31(chr1:849466-6002955)x1	ACAP3, ACTRT2 +78 more	Copy number loss	not provided	GPathogenic
Select item 814045	GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1	ACAP3, ACOT7 +98 more	Copy number loss	not provided	GPathogenic
Select item 787731	NM_018836.4(AJAP1):c.104C>T (p.Ala35Val)	AJAP1 (A35V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778204	NM_018836.4(AJAP1):c.605G>A (p.Gly202Asp)	AJAP1 (G202D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 758736	NM_018836.4(AJAP1):c.30-10C>T	AJAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 638130	GRCh37/hg19 1p36.33-36.32(chr1:2261222-5304873)x1	ACTRT2, AJAP1 +23 more	Copy number loss	See cases	GPathogenic
Select item 638124	GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	ACAP3, ACOT7 +148 more	Copy number loss	See cases	GPathogenic
Select item 638116	GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1	ACAP3, ACOT7 +100 more	Copy number loss	See cases	GPathogenic
Select item 635907	Single allele	ACAP3, ACOT7 +119 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 625766	GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363)	ANKRD65, ARHGEF16 +97 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 625765	GRCh37/hg19 1p36.33-36.31(chr1:1471075-5831645)	ACTRT2, AJAP1 +41 more	Copy number gain	not provided	GPathogenic
Select item 565067	GRCh37/hg19 1p36.32(chr1:4841320-5346549)x1	AJAP1	Copy number loss	not provided	GUncertain significance
Select item 565059	GRCh37/hg19 1p36.33-36.23(chr1:849466-7305595)x1	ACAP3, ACOT7 +98 more	Copy number loss	not provided	GPathogenic
Select item 523269	GRCh37/hg19 1p36.33-36.31(chr1:834101-6076140)	CCDC27, MIR200B +79 more	Copy number loss	Primary dilated cardiomyopathy +2 more	GPathogenic
Select item 443883	GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1	ACAP3, ACOT7 +106 more	Copy number loss	See cases	GPathogenic
Select item 443478	GRCh37/hg19 1p36.33-36.23(chr1:849466-7637060)x1	ACAP3, ACOT7 +98 more	Copy number loss	See cases	GPathogenic
Select item 443250	GRCh37/hg19 1p36.33-36.32(chr1:849466-5352492)x1	ACAP3, ACTRT2 +77 more	Copy number loss	See cases	GPathogenic
Select item 443115	GRCh37/hg19 1p36.33-36.32(chr1:1415800-5007235)x1	ACTRT2, AJAP1 +43 more	Copy number loss	See cases	GPathogenic
Select item 442919	GRCh37/hg19 1p36.33-36.31(chr1:849466-6505278)x1	ACAP3, ACOT7 +88 more	Copy number loss	See cases	GPathogenic
Select item 442741	GRCh37/hg19 1p36.32-36.23(chr1:2793822-7510850)x1	ACOT7, ACTRT2 +34 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441627	GRCh37/hg19 1p36.33-36.31(chr1:849466-6374209)x1	ACAP3, ACOT7 +86 more	Copy number loss	See cases	GPathogenic
Select item 395144	GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1	AADACL3, AADACL4 +96 more	Copy number loss	See cases	GPathogenic
Select item 393825	GRCh37/hg19 1p36.32-36.31(chr1:2609223-2631378)x3	ACTRT2, AJAP1 +35 more	Copy number gain	See cases	GBenign
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 252976	GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	ACAP3, ACOT7 +162 more	Copy number loss	See cases	GPathogenic
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	PUSL1, RER1 +470 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	LOC129929075, LOC129929076 +464 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 152936	GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	LOC112577578, LOC112577579 +199 more	Copy number loss	See cases	GPathogenic
Select item 152807	GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 152050	GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1	VWA1, WRAP73 +341 more	Copy number loss	See cases	GPathogenic
Select item 151451	GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1	ACAP3, ACTRT2 +336 more	Copy number loss	See cases	GPathogenic
Select item 150566	GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	LOC129929237, LOC129929238 +401 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	CEP104, CFAP74 +449 more	Copy number loss	See cases	GPathogenic
Select item 148916	GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 148513	GRCh38/hg38 1p36.32-36.31(chr1:2906020-5336116)x1	ACTRT2, AJAP1 +83 more	Copy number loss	See cases	GPathogenic
Select item 148305	GRCh38/hg38 1p36.33-36.32(chr1:1022094-4665295)x1	ACAP3, ACTRT2 +301 more	Copy number loss	See cases	GPathogenic
Select item 147545	GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1	ACAP3, ACTRT2 +328 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	LOC129929192, LOC129929193 +490 more	Copy number loss	See cases	GPathogenic
Select item 145360	GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3	ACAP3, ACTRT2 +341 more	Copy number gain	See cases	GPathogenic
Select item 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	ACAP3, ACOT7 +441 more	Copy number loss	See cases	GPathogenic

<< First< Prev

Page of 2