ClinVar for Gene (Select 997) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3140826	NM_004359.2(CDC34):c.678C>G (p.Asp226Glu)	CDC34 (D226E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140825	NM_004359.2(CDC34):c.449A>G (p.Lys150Arg)	CDC34 (K150R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062396	GRCh37/hg19 19p13.3(chr19:416230-548433)x1	CDC34, CIMAP1D +4 more	Copy number loss	not specified	GUncertain significance
Select item 3062384	GRCh37/hg19 19p13.3(chr19:260911-1210337)x1	ABCA7, ARHGAP45 +37 more	Copy number loss	not specified	GPathogenic
Select item 3062378	GRCh37/hg19 19p13.3(chr19:352288-1186507)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not specified	GUncertain significance
Select item 3024609	GRCh37/hg19 19p13.3(chr19:496500-590577)x3	BSG, CDC34 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685628	GRCh37/hg19 19p13.3(chr19:260912-548433)x1	C2CD4C, CDC34 +8 more	Copy number loss	not provided	GUncertain significance
Select item 2685627	GRCh37/hg19 19p13.3(chr19:260912-713630)x1	BSG, C2CD4C +16 more	Copy number loss	not provided	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2615017	NM_004359.2(CDC34):c.565G>A (p.Glu189Lys)	CDC34 (E189K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556788	NM_004359.2(CDC34):c.587C>T (p.Ala196Val)	CDC34 (A196V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410995	NM_004359.2(CDC34):c.655G>A (p.Glu219Lys)	CDC34 (E219K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368086	NM_004359.2(CDC34):c.476G>A (p.Arg159Gln)	CDC34 (R159Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357425	NM_004359.2(CDC34):c.646G>A (p.Val216Met)	CDC34 (V216M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323973	NM_004359.2(CDC34):c.301G>A (p.Val101Met)	CDC34 (V101M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273958	NM_004359.2(CDC34):c.131C>T (p.Ala44Val)	CDC34 (A44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270762	NM_004359.2(CDC34):c.527C>T (p.Ala176Val)	CDC34 (A176V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231100	NM_004359.2(CDC34):c.679G>A (p.Asp227Asn)	CDC34 (D227N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204553	NM_004359.2(CDC34):c.598G>A (p.Asp200Asn)	CDC34 (D200N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809016	GRCh37/hg19 19p13.3(chr19:260912-538303)x3	C2CD4C, CDC34 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 1703549	GRCh37/hg19 19p13.3(chr19:260911-1319319)	ABCA7, ARHGAP45 +43 more	Copy number loss	Peutz-Jeghers syndrome	GPathogenic
Select item 1340343	GRCh37/hg19 19p13.3(chr19:352289-548433)x1	C2CD4C, CDC34 +6 more	Copy number loss	not provided	GLikely benign
Select item 980200	GRCh37/hg19 19p13.3(chr19:414714-713630)x3	ODF3L2, CDC34 +12 more	Copy number gain	not provided	GLikely benign
Select item 980199	GRCh37/hg19 19p13.3(chr19:352288-633755)x3	POLRMT, GZMM +9 more	Copy number gain	not provided	GLikely benign
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ABCA7, ABHD17A +106 more	Copy number gain	not provided	GPathogenic
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	GNA11, GNA15 +100 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 444854	GRCh37/hg19 19p13.3(chr19:266117-1094614)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442971	GRCh37/hg19 19p13.3(chr19:415092-715725)x3	ABCA7, ARHGAP45 +29 more	Copy number gain	See cases	GLikely benign
Select item 442900	GRCh37/hg19 19p13.3(chr19:260911-1965786)x3	ABCA7, ABHD17A +67 more	Copy number gain	See cases	GLikely pathogenic
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic
Select item 252977	GRCh37/hg19 19p13.3(chr19:260912-1163934)x3	ABCA7, ARHGAP45 +36 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC116276498, LOC121627842 +687 more	Copy number gain	See cases	GPathogenic
Select item 57441	GRCh38/hg38 19p13.3(chr19:259395-819679)x3	BSG, BSG-AS1 +74 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 45