ID2[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +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	LOC129933017, LOC129933018 +237 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +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	HAAO, HADHA +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)	not specified	GUncertain significance
Select item 3107996	NM_002166.5(ID2):c.41G>A (p.Ser14Asn)	ID2 (S14N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473194	NM_002166.5(ID2):c.85G>A (p.Val29Met)	ID2, LOC129933044 (V29M)	Single nucleotide variant (missense variant)	not specified	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 3285215	NM_002166.5(ID2):c.220G>A (p.Asp74Asn)	ID2 (D74N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533761	NM_002166.5(ID2):c.262C>G (p.Leu88Val)	ID2 (L88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107995	NM_002166.5(ID2):c.277C>T (p.Pro93Ser)	ID2 (P93S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394305	NM_002166.5(ID2):c.302C>T (p.Thr101Met)	ID2 (T101M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380151	NM_002166.5(ID2):c.308T>G (p.Leu103Arg)	ID2 (L103R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287845	NM_002166.5(ID2):c.320A>G (p.Asn107Ser)	ID2 (N107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257524	NM_002166.5(ID2):c.365C>T (p.Ser122Phe)	ID2 (S122F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617767	NM_002166.5(ID2):c.386G>A (p.Ser129Asn)	ID2 (S129N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
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)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic

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Items: 35