ClinVar for Gene (Select 900) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264563	NM_004060.4(CCNG1):c.195C>A (p.Phe65Leu)	CCNG1 (F65L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202747	NM_145266.6(NUDCD2):c.436A>G (p.Thr146Ala)	CCNG1, NUDCD2 (T146A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139929	NM_004060.4(CCNG1):c.89A>G (p.Lys30Arg)	CCNG1 (K30R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3139928	NM_004060.4(CCNG1):c.64G>A (p.Glu22Lys)	CCNG1 (E22K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3139927	NM_004060.4(CCNG1):c.451G>A (p.Ala151Thr)	CCNG1 (A17T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610387	NM_004060.4(CCNG1):c.131G>A (p.Gly44Asp)	CCNG1 (G44D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2544820	NM_004060.4(CCNG1):c.683A>G (p.Gln228Arg)	CCNG1 (Q170R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539865	NM_145266.6(NUDCD2):c.467A>C (p.Glu156Ala)	CCNG1, NUDCD2 (E156A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458086	NM_004060.4(CCNG1):c.389C>T (p.Thr130Met)	CCNG1 (T130M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2407691	NM_145266.6(NUDCD2):c.252G>A (p.Met84Ile)	CCNG1, NUDCD2 (M84I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391267	NM_145266.6(NUDCD2):c.310C>G (p.Leu104Val)	CCNG1, NUDCD2 (L104V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372701	NM_004060.4(CCNG1):c.615G>T (p.Leu205Phe)	CCNG1 (L204F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322208	NM_004060.4(CCNG1):c.152T>G (p.Leu51Arg)	CCNG1 (L51R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2299337	NM_004060.4(CCNG1):c.507G>C (p.Leu169Phe)	CCNG1 (L35F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204227	NM_004060.4(CCNG1):c.352G>A (p.Ala118Thr)	CCNG1 (A118T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1879644	GRCh37/hg19 5q33.3-34(chr5:156786013-162945369)x1	PTTG1, UBLCP1 +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1707452	Single allele	ADRA1B, ATP10B +111 more	Duplication	not specified	GUncertain significance
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 981806	NM_004060.4(CCNG1):c.441G>C (p.Trp147Cys)	CCNG1 (W13C +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 929325	GRCh37/hg19 5q34(chr5:161880996-162958461)x3	CCNG1, HMMR +2 more	Copy number gain	See cases	GUncertain significance
Select item 814756	GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1	ADAM19, ADRA1B +51 more	Copy number loss	not provided	GPathogenic
Select item 686758	GRCh37/hg19 5q34(chr5:162636748-163072415)x1	CCNG1, HMMR +2 more	Copy number loss	not provided	GUncertain significance
Select item 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	GPathogenic
Select item 563121	GRCh37/hg19 5q34(chr5:162772647-162878762)x1	CCNG1	Copy number loss	not provided	GUncertain significance
Select item 563120	GRCh37/hg19 5q34(chr5:161650030-164111161)x3	HMMR, MAT2B +2 more	Copy number gain	not provided	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 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
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 253504	GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1	ADAM19, ADRA1B +50 more	Copy number loss	See cases	GPathogenic
Select item 149967	GRCh38/hg38 5q33.3-34(chr5:158941354-164386760)x1	GABRA1, GABRA6 +108 more	Copy number loss	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 58393	GRCh38/hg38 5q34(chr5:161909955-164086917)x1	CCNG1, GABRG2 +17 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 38