adam21[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	ABCD4, ACOT1 +503 more	Copy number loss	See cases	GPathogenic
Select item 2317761	NM_003813.4(ADAM21):c.140A>C (p.Lys47Thr)	ADAM21 (K47T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390032	NM_003813.4(ADAM21):c.148A>G (p.Ser50Gly)	ADAM21 (S50G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458537	NM_003813.4(ADAM21):c.217G>A (p.Val73Ile)	ADAM21 (V73I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2236921	NM_003813.4(ADAM21):c.538G>A (p.Val180Ile)	ADAM21 (V180I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2544999	NM_003813.4(ADAM21):c.735G>A (p.Met245Ile)	ADAM21 (M245I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2336202	NM_003813.4(ADAM21):c.773T>C (p.Ile258Thr)	ADAM21 (I258T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219741	NM_003813.4(ADAM21):c.852A>T (p.Gln284His)	ADAM21 (Q284H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222903	NM_003813.4(ADAM21):c.890T>C (p.Met297Thr)	ADAM21 (M297T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284991	NM_003813.4(ADAM21):c.896T>C (p.Ile299Thr)	ADAM21 (I299T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387839	NM_003813.4(ADAM21):c.923G>T (p.Gly308Val)	ADAM21 (G308V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204080	NM_003813.4(ADAM21):c.949C>T (p.Arg317Cys)	ADAM21 (R317C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285332	NM_003813.4(ADAM21):c.1052A>G (p.His351Arg)	ADAM21 (H351R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622896	NM_003813.4(ADAM21):c.1157C>G (p.Thr386Ser)	ADAM21 (T386S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607414	NM_003813.4(ADAM21):c.1216C>G (p.Leu406Val)	ADAM21 (L406V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263181	NM_003813.4(ADAM21):c.1223G>A (p.Arg408His)	ADAM21 (R408H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246610	NM_003813.4(ADAM21):c.1319T>C (p.Leu440Pro)	ADAM21 (L440P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345699	NM_003813.4(ADAM21):c.1453C>T (p.Pro485Ser)	ADAM21 (P485S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492896	NM_003813.4(ADAM21):c.1520G>A (p.Cys507Tyr)	ADAM21 (C507Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490362	NM_003813.4(ADAM21):c.1615C>A (p.Arg539Ser)	ADAM21 (R539S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348104	NM_003813.4(ADAM21):c.1616G>A (p.Arg539His)	ADAM21 (R539H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359431	NM_003813.4(ADAM21):c.1711A>T (p.Ile571Phe)	ADAM21 (I571F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226062	NM_003813.4(ADAM21):c.1847G>A (p.Gly616Glu)	ADAM21 (G616E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269781	NM_003813.4(ADAM21):c.1919A>G (p.Asn640Ser)	ADAM21 (N640S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495396	NM_003813.4(ADAM21):c.1931T>G (p.Ile644Ser)	ADAM21 (I644S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460386	NM_003813.4(ADAM21):c.2041G>A (p.Gly681Arg)	ADAM21 (G681R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2204709	NM_003813.4(ADAM21):c.2054C>T (p.Pro685Leu)	ADAM21 (P685L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685493	GRCh37/hg19 14q24.2(chr14:70651622-70949256)x1	ADAM21, COX16 +2 more	Copy number loss	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 980611	GRCh37/hg19 14q24.2(chr14:70911391-70992969)x1	ADAM21, ADAM20	Copy number loss	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 443425	GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1	ACTN1, ADAM20 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic

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Items: 37