244[HGNC] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 1707458	Single allele	AAK1, ADD2 +107 more	Duplication	not specified	GUncertain significance
Select item 2328960	NM_001617.4(ADD2):c.2080C>G (p.Pro694Ala)	ADD2 (P694A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269969	NM_001617.4(ADD2):c.2074A>G (p.Met692Val)	ADD2 (M692V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225000	NM_001617.4(ADD2):c.1931C>T (p.Pro644Leu)	ADD2 (P644L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384758	NM_001617.4(ADD2):c.1903G>A (p.Ala635Thr)	ADD2 (A635T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2651014	NM_001617.4(ADD2):c.1896C>T (p.Ser632=)	ADD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3082792	NM_001617.4(ADD2):c.1806G>A (p.Val602=)	ADD2 (C631Y)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3082788	NM_001617.4(ADD2):c.1721G>A (p.Arg574Lys)	ADD2 (R574K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594126	NM_001617.4(ADD2):c.1686C>G (p.Asp562Glu)	ADD2 (D562E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651015	NM_001617.4(ADD2):c.1627G>A (p.Glu543Lys)	ADD2 (E543K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2474069	NM_001617.4(ADD2):c.1534T>A (p.Ser512Thr)	ADD2 (S528T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274641	NM_001617.4(ADD2):c.1399G>A (p.Glu467Lys)	ADD2, LOC126806247 (E467K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264473	NM_001617.4(ADD2):c.1256T>G (p.Leu419Arg)	ADD2, LOC126806247 (L435R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082774	NM_001617.4(ADD2):c.1252G>C (p.Ala418Pro)	ADD2, LOC126806247 (A434P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389281	NM_001617.4(ADD2):c.1244C>T (p.Pro415Leu)	ADD2, LOC126806247 (P431L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269950	NM_001617.4(ADD2):c.1222G>A (p.Val408Met)	ADD2, LOC126806247 (V424M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082765	NM_001617.4(ADD2):c.1174A>T (p.Thr392Ser)	ADD2, LOC126806247 (T392S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082762	NM_001617.4(ADD2):c.1168G>A (p.Glu390Lys)	ADD2, LOC126806247 (E406K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082758	NM_001617.4(ADD2):c.1129T>C (p.Tyr377His)	ADD2 (Y377H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525170	NM_001617.4(ADD2):c.1063A>C (p.Met355Leu)	ADD2 (M355L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556676	NM_001617.4(ADD2):c.1033G>C (p.Val345Leu)	ADD2 (V361L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783330	NM_001617.4(ADD2):c.1005G>T (p.Glu335Asp)	ADD2 (E351D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3082837	NM_001617.4(ADD2):c.874G>T (p.Val292Leu)	ADD2 (V308L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082834	NM_001617.4(ADD2):c.812G>A (p.Arg271Gln)	ADD2 (R287Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355907	NM_001617.4(ADD2):c.736G>A (p.Val246Ile)	ADD2 (V246I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612841	NM_001617.4(ADD2):c.695C>G (p.Ala232Gly)	ADD2 (A248G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269938	NM_001617.4(ADD2):c.673A>G (p.Ile225Val)	ADD2 (I225V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535929	NM_001617.4(ADD2):c.661G>A (p.Asp221Asn)	ADD2 (D221N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313150	NM_001617.4(ADD2):c.449C>T (p.Ala150Val)	ADD2 (A166V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385492	NM_001617.4(ADD2):c.425G>A (p.Arg142Gln)	ADD2 (R142Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082815	NM_001617.4(ADD2):c.397A>C (p.Met133Leu)	ADD2 (M133L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269958	NM_001617.4(ADD2):c.391C>T (p.Arg131Trp)	ADD2 (R131W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348283	NM_001617.4(ADD2):c.338C>T (p.Thr113Met)	ADD2 (T129M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531619	NM_001617.4(ADD2):c.325G>A (p.Val109Ile)	ADD2 (V125I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082808	NM_001617.4(ADD2):c.274G>A (p.Asp92Asn)	ADD2 (D108N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555472	NM_001617.4(ADD2):c.193G>C (p.Glu65Gln)	ADD2 (E65Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082751	NM_001617.4(ADD2):c.101T>A (p.Leu34His)	ADD2 (L50H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783975	NM_001617.4(ADD2):c.82G>A (p.Asp28Asn)	ADD2 (D28N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2495831	NM_001617.4(ADD2):c.55C>T (p.Pro19Ser)	ADD2 (P19S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710414	NM_001617.4(ADD2):c.50G>A (p.Gly17Glu)	ADD2 (G17E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3269948	NM_001617.4(ADD2):c.32C>T (p.Ser11Leu)	ADD2 (S11L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 144474	GRCh38/hg38 2p13.3-13.2(chr2:70709155-72346899)x3	ADD2, ANKRD53 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2498868	GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1	AAK1, ACTR2 +43 more	Copy number loss	not provided	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	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 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
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: 52