1622[HGNC] - ClinVar

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

Search results

Items: 41

	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 3140203	NM_006429.4(CCT7):c.32A>T (p.Glu11Val)	CCT7 (E11V)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2476257	NM_006429.4(CCT7):c.209A>G (p.Asp70Gly)	CCT7 (D26G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3140204	NM_006429.4(CCT7):c.343G>C (p.Gly115Arg)	CCT7 (G28R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3140205	NM_006429.4(CCT7):c.344G>T (p.Gly115Val)	CCT7 (G71V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2372620	NM_006429.4(CCT7):c.386C>T (p.Thr129Ile)	CCT7 (T42I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2623371	NM_006429.4(CCT7):c.427G>A (p.Val143Met)	CCT7 (V143M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2621112	NM_006429.4(CCT7):c.544G>A (p.Ala182Thr)	CCT7 (A95T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2227042	NM_006429.4(CCT7):c.710T>C (p.Ile237Thr)	CCT7 (I150T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547985	NM_006429.4(CCT7):c.877C>G (p.Leu293Val)	CCT7 (L89V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140206	NM_006429.4(CCT7):c.896C>G (p.Ala299Gly)	CCT7 (A299G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140199	NM_006429.4(CCT7):c.1096A>G (p.Lys366Glu)	CCT7 (K322E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2672818	NM_006429.4(CCT7):c.1185C>G (p.Ile395Met)	CCT7 (I191M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2318335	NM_006429.4(CCT7):c.1283C>T (p.Pro428Leu)	CCT7 (P428L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460458	NM_006429.4(CCT7):c.1399C>G (p.Arg467Gly)	CCT7 (R380G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140200	NM_006429.4(CCT7):c.1412G>C (p.Gly471Ala)	CCT7 (G267A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140201	NM_006429.4(CCT7):c.1450A>G (p.Ile484Val)	CCT7 (I397V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605050	NM_006429.4(CCT7):c.1502A>T (p.Asn501Ile)	CCT7 (N414I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455410	NM_006429.4(CCT7):c.1505C>T (p.Ala502Val)	CCT7 (A415V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267556	NM_006429.4(CCT7):c.1517C>T (p.Ala506Val)	CCT7 (A302V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140202	NM_006429.4(CCT7):c.1529C>T (p.Ala510Val)	CCT7 (A423V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356131	NM_006429.4(CCT7):c.1540G>A (p.Val514Met)	CCT7 (V310M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383119	NM_006429.4(CCT7):c.1546G>A (p.Val516Ile)	CCT7 (V312I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553082	NM_006429.4(CCT7):c.1555A>G (p.Thr519Ala)	CCT7 (T432A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 65429	NM_006429.4(CCT7):c.1574C>T (p.Ser525Leu)	CCT7 (S438L +3 more)	Single nucleotide variant (missense variant +1 more)	Myocardial infarction, susceptibility to, 1	GPathogenic
Select item 2547630	NM_006429.4(CCT7):c.1588C>T (p.Pro530Ser)	CCT7 (P530S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264683	NM_006429.4(CCT7):c.1613G>A (p.Gly538Asp)	CCT7 (G538D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514446	NM_006429.4(CCT7):c.1615C>T (p.Arg539Cys)	CCT7 (R495C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2425561	NC_000002.11:g.(?_72359356)_(74779761_?)del	ACTG2, ALMS1 +42 more	Deletion	not provided	GPathogenic
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
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 1526818	GRCh37/hg19 2p13.2-13.1(chr2:73477212-74065941)	ALMS1, C2orf78 +8 more	Copy number loss	not specified	GUncertain significance
Select item 1056266	NC_000002.11:g.(?_73114549)_(73836749_?)dup	NOTO, ALMS1 +9 more	Duplication	Alstrom syndrome	GUncertain significance
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

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: 41