CDK7[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 146335	GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3	ADAMTS6, AK6 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 57512	GRCh38/hg38 5q12.3-13.2(chr5:64932763-69495504)x1	ADAMTS6, AK6 +115 more	Copy number loss	See cases	GPathogenic
Select item 154729	GRCh38/hg38 5q12.3-13.2(chr5:65976124-71317474)x3	AK6, CCDC125 +101 more	Copy number gain	See cases	GUncertain significance
Select item 2296163	NM_001799.4(CDK7):c.7C>G (p.Leu3Val)	CDK7 (L3V)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GLikely benign
Select item 2463208	NM_001799.4(CDK7):c.80A>G (p.Tyr27Cys)	CDK7 (T16A +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2533920	NM_001799.4(CDK7):c.103A>T (p.Asn35Tyr)	CDK7 (N35Y)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2551928	NM_001799.4(CDK7):c.485T>C (p.Phe162Ser)	CDK7 (F162S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265504	NM_001799.4(CDK7):c.587T>C (p.Met196Thr)	CDK7 (M139T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329404	NM_001799.4(CDK7):c.799G>A (p.Asp267Asn)	CDK7 (D210N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141604	NM_001799.4(CDK7):c.872A>T (p.Lys291Ile)	CCDC125, CDK7 (K198I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274005	NM_001799.4(CDK7):c.927A>T (p.Arg309Ser)	CCDC125, CDK7 (R252S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319199	NM_001799.4(CDK7):c.970G>C (p.Ala324Pro)	CCDC125, CDK7 (A324P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148880	GRCh37/hg19 5q12.3-13.2(chr5:64364710-72835471)x1	ADAMTS6, CDK7 +40 more	Copy number loss	See cases	GPathogenic
Select item 1527167	GRCh37/hg19 5q12.3-13.2(chr5:64049692-70306646)	ADAMTS6, CCDC125 +28 more	Copy number loss	not specified	GPathogenic
Select item 1340095	GRCh37/hg19 5q13.1-13.2(chr5:68203539-68641982)x3	CCDC125, CCNB1 +4 more	Copy number gain	not provided	GLikely benign
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 617596	GRCh37/hg19 5q13.1-13.2(chr5:68278453-70369959)x3	CCDC125, CCNB1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 563075	GRCh37/hg19 5q12.3-13.2(chr5:65315606-68755816)x1	CD180, RAD17 +12 more	Copy number loss	not provided	GLikely pathogenic
Select item 442841	GRCh37/hg19 5q13.1-13.2(chr5:68313021-68847066)x4	CCDC125, CCNB1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442344	GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4	ADAMTS6, CCDC125 +39 more	Copy number gain	See cases	GLikely pathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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Items: 25