ClinVar for Gene (Select 10574) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
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 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

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Links from Gene

Items: 41