ClinVar for Gene (Select 9402) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3102207	NM_004810.4(GRAP2):c.770T>A (p.Met257Lys)	GRAP2 (M144K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102206	NM_004810.4(GRAP2):c.675C>G (p.His225Gln)	GRAP2 (H112Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102205	NM_004810.4(GRAP2):c.38G>A (p.Gly13Asp)	GRAP2 (G13D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3102204	NM_004810.4(GRAP2):c.326G>A (p.Arg109Gln)	GRAP2 (R37Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102203	NM_004810.4(GRAP2):c.273C>A (p.Asp91Glu)	GRAP2 (D91E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102202	NM_004810.4(GRAP2):c.139C>A (p.Pro47Thr)	GRAP2 (P47T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062459	GRCh37/hg19 22q13.1-13.2(chr22:39935185-41752098)x1	ADSL, CACNA1I +18 more	Copy number loss	not specified	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 2685678	GRCh37/hg19 22q13.1(chr22:40283084-40377180)x1	ENTHD1, GRAP2	Copy number loss	not provided	GUncertain significance
Select item 2597187	NM_004810.4(GRAP2):c.551G>A (p.Arg184Gln)	GRAP2 (R112Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568867	NM_004810.4(GRAP2):c.715A>G (p.Ile239Val)	GRAP2 (I167V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512268	NM_004810.4(GRAP2):c.484C>T (p.Arg162Trp)	GRAP2 (R162W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488110	NM_004810.4(GRAP2):c.428T>C (p.Ile143Thr)	GRAP2 (I143T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455439	NM_004810.4(GRAP2):c.446C>A (p.Thr149Asn)	GRAP2 (T149N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	APOL2, APOL3 +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2395337	NM_004810.4(GRAP2):c.449G>A (p.Arg150Gln)	GRAP2 (R150Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392991	NM_004810.4(GRAP2):c.574A>C (p.Thr192Pro)	GRAP2 (T192P +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2358118	NM_004810.4(GRAP2):c.934C>T (p.Arg312Cys)	GRAP2 (R199C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252687	NM_004810.4(GRAP2):c.830G>A (p.Arg277Gln)	GRAP2 (R277Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809336	GRCh37/hg19 22q13.1-13.2(chr22:39768795-41946225)x3	ACO2, ADSL +29 more	Copy number gain	not provided	GUncertain significance
Select item 1808635	GRCh37/hg19 22q13.1-13.2(chr22:40131240-41556564)x1	ADSL, DNAJB7 +12 more	Copy number loss	not provided	GPathogenic
Select item 1408743	NC_000022.10:g.(?_39621728)_(41077932_?)dup	ADSL, ATF4 +19 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 760619	NM_004810.4(GRAP2):c.834G>A (p.Ala278=)	GRAP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733012	NM_004810.4(GRAP2):c.801C>G (p.Leu267=)	GRAP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 724441	NM_004810.4(GRAP2):c.466C>T (p.Arg156Trp)	GRAP2 (R84W +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711088	NM_004810.4(GRAP2):c.739G>A (p.Gly247Ser)	GRAP2 (G134S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711087	NM_004810.4(GRAP2):c.460-7C>T	GRAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 708853	NM_004810.4(GRAP2):c.536G>A (p.Arg179Gln)	GRAP2 (R179Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 564981	GRCh37/hg19 22q13.1(chr22:40191256-40308683)x1	GRAP2, ENTHD1	Copy number loss	not provided	GUncertain significance
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 42