ADAM15[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 60040	GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1	LOC129931527, LOC129931528 +91 more	Copy number loss	See cases	GPathogenic
Select item 151444	GRCh38/hg38 1q21.3-22(chr1:155006546-155464263)x3	ADAM15, ADAM15-EFNA4 +67 more	Copy number gain	See cases	GUncertain significance
Select item 2290081	NM_207197.3(ADAM15):c.10G>A (p.Ala4Thr)	ADAM15, ADAM15-EFNA4 +2 more (A4T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411212	NM_207197.3(ADAM15):c.53T>C (p.Leu18Pro)	ADAM15, ADAM15-EFNA4 +2 more (L18P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346934	NM_207197.3(ADAM15):c.55C>T (p.Pro19Ser)	ADAM15, ADAM15-EFNA4 +2 more (P19S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531070	NM_207197.3(ADAM15):c.124G>A (p.Glu42Lys)	ADAM15, ADAM15-EFNA4 +1 more (E52K +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2246970	NM_207197.3(ADAM15):c.175A>G (p.Lys59Glu)	ADAM15, ADAM15-EFNA4 +1 more (K69E +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2205752	NM_207197.3(ADAM15):c.238C>T (p.His80Tyr)	ADAM15, ADAM15-EFNA4 +1 more (H80Y +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2528666	NM_207197.3(ADAM15):c.317G>A (p.Arg106Gln)	ADAM15, ADAM15-EFNA4 +1 more (R116Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216099	NM_207197.3(ADAM15):c.332G>A (p.Gly111Glu)	ADAM15, ADAM15-EFNA4 +1 more (G111E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211248	NM_207197.3(ADAM15):c.430G>A (p.Val144Ile)	ADAM15, ADAM15-EFNA4 +1 more (V128I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2546055	NM_207197.3(ADAM15):c.458T>C (p.Leu153Pro)	ADAM15, ADAM15-EFNA4 +1 more (L137P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407260	NM_207197.3(ADAM15):c.550C>T (p.Arg184Trp)	ADAM15, ADAM15-EFNA4 +1 more (R168W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467587	NM_207197.3(ADAM15):c.598C>T (p.Arg200Cys)	ADAM15, ADAM15-EFNA4 +1 more (R184C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 770116	NM_207197.3(ADAM15):c.718C>A (p.Leu240Met)	ADAM15, ADAM15-EFNA4 +1 more (L224M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2473468	NM_207197.3(ADAM15):c.803G>A (p.Arg268His)	ADAM15, ADAM15-EFNA4 +1 more (R252H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2521220	NM_207197.3(ADAM15):c.997A>G (p.Met333Val)	ADAM15, ADAM15-EFNA4 +1 more (M317V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599045	NM_207197.3(ADAM15):c.1036A>G (p.Ile346Val)	ADAM15-EFNA4, DCST1-AS1 +1 more (I346V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211519	NM_207197.3(ADAM15):c.1039G>T (p.Ala347Ser)	ADAM15, ADAM15-EFNA4 +1 more (A331S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2333906	NM_207197.3(ADAM15):c.1166A>C (p.Asn389Thr)	ADAM15, ADAM15-EFNA4 +1 more (N373T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2568665	NM_207197.3(ADAM15):c.1187G>A (p.Arg396Gln)	ADAM15, ADAM15-EFNA4 +1 more (R380Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2454271	NM_207197.3(ADAM15):c.1204C>A (p.Leu402Ile)	ADAM15, ADAM15-EFNA4 +1 more (L386I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551160	NM_207197.3(ADAM15):c.1217T>A (p.Met406Lys)	ADAM15, ADAM15-EFNA4 +1 more (M390K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552070	NM_207197.3(ADAM15):c.1234G>A (p.Glu412Lys)	ADAM15, ADAM15-EFNA4 +1 more (E412K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218779	NM_207197.3(ADAM15):c.1279A>G (p.Met427Val)	ADAM15, ADAM15-EFNA4 +1 more (M411V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284366	NM_207197.3(ADAM15):c.1297G>A (p.Glu433Lys)	ADAM15, ADAM15-EFNA4 +1 more (E417K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378564	NM_207197.3(ADAM15):c.1424C>T (p.Pro475Leu)	ADAM15, ADAM15-EFNA4 +1 more (P475L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606123	NM_207197.3(ADAM15):c.1562A>G (p.His521Arg)	ADAM15, ADAM15-EFNA4 +1 more (H521R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272193	NM_207197.3(ADAM15):c.1624G>A (p.Ala542Thr)	ADAM15, ADAM15-EFNA4 +1 more (A552T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535673	NM_207197.3(ADAM15):c.1628C>T (p.Ala543Val)	ADAM15, ADAM15-EFNA4 +1 more (A543V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216180	NM_207197.3(ADAM15):c.1808T>C (p.Ile603Thr)	ADAM15, ADAM15-EFNA4 +1 more (I587T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532638	NM_207197.3(ADAM15):c.1811A>T (p.Asp604Val)	ADAM15, ADAM15-EFNA4 +1 more (D588V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2639392	NM_207197.3(ADAM15):c.1836C>T (p.Cys612=)	ADAM15, ADAM15-EFNA4 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2621276	NM_207197.3(ADAM15):c.1874A>C (p.Gln625Pro)	ADAM15, ADAM15-EFNA4 +1 more (Q635P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 777560	NM_207197.3(ADAM15):c.1918-6G>T	ADAM15, ADAM15-EFNA4 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2398411	NM_207197.3(ADAM15):c.1934G>A (p.Arg645Gln)	ADAM15, ADAM15-EFNA4 +1 more (R645Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2606022	NM_207197.3(ADAM15):c.2023T>C (p.Cys675Arg)	ADAM15, ADAM15-EFNA4 +1 more (C685R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468824	NM_207197.3(ADAM15):c.2059C>A (p.Gln687Lys)	ADAM15, ADAM15-EFNA4 +1 more (Q697K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520011	NM_207197.3(ADAM15):c.2153G>A (p.Arg718His)	ADAM15, ADAM15-EFNA4 +1 more (R718H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595256	NM_207197.3(ADAM15):c.2171G>A (p.Arg724Gln)	ADAM15, ADAM15-EFNA4 +1 more (R724Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481925	NM_207197.3(ADAM15):c.2246C>T (p.Pro749Leu)	ADAM15, ADAM15-EFNA4 +1 more (P749L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2258121	NM_207197.3(ADAM15):c.2266C>G (p.Arg756Gly)	ADAM15, ADAM15-EFNA4 +1 more (R756G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2358529	NM_207197.3(ADAM15):c.2300C>T (p.Pro767Leu)	ADAM15, ADAM15-EFNA4 +1 more (P766L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 100897	NM_207197.3(ADAM15):c.2307C>T (p.Pro769=)	ADAM15, ADAM15-EFNA4 +1 more (P745L)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2345241	NM_207197.3(ADAM15):c.2308C>A (p.Pro770Thr)	ADAM15, ADAM15-EFNA4 +1 more (P769T +1 more)	Single nucleotide variant (synonymous variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2360326	NM_207197.3(ADAM15):c.2309C>A (p.Pro770His)	ADAM15, ADAM15-EFNA4 +1 more (L746I +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2550658	NM_207197.3(ADAM15):c.2321T>C (p.Leu774Pro)	ADAM15, ADAM15-EFNA4 +1 more (C750R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2512966	NM_207197.3(ADAM15):c.2387G>A (p.Arg796His)	ADAM15, ADAM15-EFNA4 +1 more (R795H +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2306666	NM_207197.3(ADAM15):c.2405C>T (p.Pro802Leu)	ADAM15, ADAM15-EFNA4 +1 more (P777L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	MUC1, PMVK +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CKS1B, CLK2 +228 more	Duplication	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 814131	GRCh37/hg19 1q21.3-22(chr1:154898854-155242457)x3	EFNA4, ENTREP3 +23 more	Copy number gain	not provided	GUncertain significance
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 63