ALCAM[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ADGRG7, ABHD10 +430 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +397 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57243	GRCh38/hg38 3q13.11-13.13(chr3:103692220-109605902)x1	ALCAM, BBX +89 more	Copy number loss	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC129937263, LOC129937264 +247 more	Copy number gain	See cases	GPathogenic
Select item 147715	GRCh38/hg38 3q13.11(chr3:105422852-105685449)x1	ALCAM, CBLB	Copy number loss	See cases	GBenign
Select item 2776128	NM_001627.4(ALCAM):c.74-5dup	ALCAM	Duplication (intron variant)	not provided	GBenign
Select item 2654016	NM_001627.4(ALCAM):c.93A>C (p.Val31=)	ALCAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711883	NM_001627.4(ALCAM):c.243C>T (p.Asp81=)	ALCAM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2515147	NM_001627.4(ALCAM):c.245A>T (p.Asp82Val)	ALCAM (D82V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 784013	NM_001627.4(ALCAM):c.251C>T (p.Pro84Leu)	ALCAM (P84L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2465549	NM_001627.4(ALCAM):c.298A>G (p.Ile100Val)	ALCAM (I100V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486123	NM_001627.4(ALCAM):c.385A>C (p.Lys129Gln)	ALCAM (K129Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217366	NM_001627.4(ALCAM):c.433T>G (p.Phe145Val)	ALCAM (F145V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339082	NM_001627.4(ALCAM):c.505A>G (p.Thr169Ala)	ALCAM (T169A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280863	NM_001627.4(ALCAM):c.548C>T (p.Ala183Val)	ALCAM (A183V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2548683	NM_001627.4(ALCAM):c.569A>G (p.Lys190Arg)	ALCAM (K190R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236775	NM_001627.4(ALCAM):c.656C>G (p.Thr219Ser)	ALCAM (T219S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322887	NM_001627.4(ALCAM):c.661T>A (p.Ser221Thr)	ALCAM (S221T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 733684	NM_001627.4(ALCAM):c.672T>C (p.Tyr224=)	ALCAM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2486254	NM_001627.4(ALCAM):c.744G>C (p.Gln248His)	ALCAM (Q248H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 728856	NM_001627.4(ALCAM):c.762G>A (p.Leu254=)	ALCAM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2326991	NM_001627.4(ALCAM):c.778A>G (p.Ile260Val)	ALCAM (I260V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290055	NM_001627.4(ALCAM):c.875T>G (p.Ile292Arg)	ALCAM (I292R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365735	NM_001627.4(ALCAM):c.881G>T (p.Ser294Ile)	ALCAM (S294I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1242703	NM_001627.4(ALCAM):c.902C>T (p.Thr301Met)	ALCAM (T301M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2620341	NM_001627.4(ALCAM):c.904G>C (p.Asp302His)	ALCAM (D302H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618947	NM_001627.4(ALCAM):c.962T>C (p.Met321Thr)	ALCAM (M321T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 774843	NM_001627.4(ALCAM):c.1080G>T (p.Arg360Ser)	ALCAM (R360S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 789937	NM_001627.4(ALCAM):c.1362C>T (p.Ser454=)	ALCAM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2551823	NM_001627.4(ALCAM):c.1480A>G (p.Thr494Ala)	ALCAM (T494A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773182	NM_001627.4(ALCAM):c.1524C>T (p.His508=)	ALCAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2326802	NM_001627.4(ALCAM):c.1525G>A (p.Asp509Asn)	ALCAM (D509N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361012	NM_001627.4(ALCAM):c.1636G>A (p.Val546Ile)	ALCAM (V546I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336144	NM_001627.4(ALCAM):c.1703T>C (p.Met568Thr)	ALCAM (M568T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062682	GRCh37/hg19 3q13.11-13.12(chr3:104543802-107063286)x3	ALCAM, CBLB	Copy number gain	not specified	GUncertain significance
Select item 2685928	GRCh37/hg19 3q13.11(chr3:104454343-105313724)x3	ALCAM	Copy number gain	not provided	GUncertain significance
Select item 1341297	GRCh37/hg19 3q13.11(chr3:103880751-105922594)x3	ALCAM, CBLB	Copy number gain	not provided	GUncertain significance
Select item 814468	GRCh37/hg19 3q12.3-13.2(chr3:101812245-112174485)x1	ABHD10, ALCAM +29 more	Copy number loss	not provided	GPathogenic
Select item 562798	GRCh37/hg19 3q13.11(chr3:104712398-105090473)x3	ALCAM	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393800	GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1	ABHD10, ALCAM +53 more	Copy number loss	See cases	GPathogenic

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Items: 46