ID2[gene] - ClinVar

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

Search results

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129932995, LOC129932996 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	LOC129933180, LOC129933181 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	ACP1, ADAM17 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 59132	GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3	LOC126806115, LOC126806116 +237 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	LOC126806154, LOC126806155 +546 more	Copy number gain	See cases	GPathogenic
Select item 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 151155	GRCh38/hg38 2p25.1(chr2:8397352-9440634)x4	ASAP2, CPSF3 +49 more	Copy number gain	See cases	GUncertain significance
Select item 2328293	NM_002166.5(ID2):c.11T>C (p.Phe4Ser)	ID2 (F4S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473194	NM_002166.5(ID2):c.85G>A (p.Val29Met)	ID2, LOC129933044 (V29M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783971	NM_002166.5(ID2):c.103C>T (p.Leu35=)	ID2, LOC129933044	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2533761	NM_002166.5(ID2):c.262C>G (p.Leu88Val)	ID2 (L88V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394305	NM_002166.5(ID2):c.302C>T (p.Thr101Met)	ID2 (T101M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380151	NM_002166.5(ID2):c.308T>G (p.Leu103Arg)	ID2 (L103R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287845	NM_002166.5(ID2):c.320A>G (p.Asn107Ser)	ID2 (N107S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257524	NM_002166.5(ID2):c.365C>T (p.Ser122Phe)	ID2 (S122F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617767	NM_002166.5(ID2):c.386G>A (p.Ser129Asn)	ID2 (S129N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 2426589	NC_000002.11:g.(?_7968276)_(10192634_?)dup	ADAM17, ASAP2 +10 more	Duplication	not provided	GUncertain significance
Select item 2426587	NC_000002.11:g.(?_7968276)_(10192634_?)del	ADAM17, ASAP2 +10 more	Deletion	not provided	GPathogenic
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 443791	GRCh37/hg19 2p25.1(chr2:8166517-9325026)x3	ID2, KIDINS220 +1 more	Copy number gain	See cases	GUncertain significance
Select item 443675	GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3	ACP1, ADAM17 +65 more	Copy number gain	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 31