GRAMD2A[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 57140	GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1	ADPGK, ADPGK-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 58353	GRCh38/hg38 15q23-24.1(chr15:72058544-72481033)x3	ARIH1, CELF6 +33 more	Copy number gain	See cases	GUncertain significance
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 152608	GRCh38/hg38 15q23(chr15:72154949-72188562)x1	GRAMD2A, LOC121847956 +1 more	Copy number loss	See cases	GUncertain significance
Select item 3102169	NM_001012642.3(GRAMD2A):c.1043A>G (p.Asp348Gly)	GRAMD2A (D348G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3102179	NM_001012642.3(GRAMD2A):c.992C>T (p.Ala331Val)	GRAMD2A (A331V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462666	NM_001012642.3(GRAMD2A):c.973A>G (p.Met325Val)	GRAMD2A (M325V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102178	NM_001012642.3(GRAMD2A):c.907G>A (p.Gly303Arg)	GRAMD2A (G303R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102177	NM_001012642.3(GRAMD2A):c.903C>G (p.Ser301Arg)	GRAMD2A (S301R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282592	NM_001012642.3(GRAMD2A):c.824C>G (p.Pro275Arg)	GRAMD2A (P275R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102176	NM_001012642.3(GRAMD2A):c.805G>T (p.Gly269Cys)	GRAMD2A (G269C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531304	NM_001012642.3(GRAMD2A):c.778G>T (p.Gly260Cys)	GRAMD2A (G260C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710817	NM_001012642.3(GRAMD2A):c.710_713del (p.Asp237fs)	GRAMD2A (D237fs)	Microsatellite (frameshift variant)	not provided	GLikely benign
Select item 3102174	NM_001012642.3(GRAMD2A):c.526G>C (p.Val176Leu)	GRAMD2A (V176L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282593	NM_001012642.3(GRAMD2A):c.496C>T (p.Arg166Trp)	GRAMD2A (R166W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102173	NM_001012642.3(GRAMD2A):c.416A>G (p.Lys139Arg)	GRAMD2A (K139R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532468	NM_001012642.3(GRAMD2A):c.352C>G (p.Leu118Val)	GRAMD2A (L118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102172	NM_001012642.3(GRAMD2A):c.326C>G (p.Pro109Arg)	GRAMD2A (P109R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102171	NM_001012642.3(GRAMD2A):c.313C>G (p.Leu105Val)	GRAMD2A (L105V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282594	NM_001012642.3(GRAMD2A):c.311G>A (p.Arg104Gln)	GRAMD2A (R104Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491616	NM_001012642.3(GRAMD2A):c.248T>G (p.Leu83Trp)	GRAMD2A, LOC121847956 (L83W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469316	NM_001012642.3(GRAMD2A):c.209A>G (p.Tyr70Cys)	GRAMD2A, LOC121847956 (Y70C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514185	NM_001012642.3(GRAMD2A):c.142T>C (p.Trp48Arg)	GRAMD2A (W48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599269	NM_001012642.3(GRAMD2A):c.103C>A (p.Pro35Thr)	GRAMD2A (P35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102175	NM_001012642.3(GRAMD2A):c.79A>T (p.Ser27Cys)	GRAMD2A (S27C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102170	NM_001012642.3(GRAMD2A):c.16C>T (p.Arg6Trp)	GRAMD2A, LOC130057465 (R6W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685522	GRCh37/hg19 15q23(chr15:72434304-72487897)x1	GRAMD2A	Copy number loss	not provided	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 1808840	GRCh37/hg19 15q23(chr15:72438858-72487897)x1	GRAMD2A	Copy number loss	not provided	GUncertain significance
Select item 1458323	NC_000015.9:g.(?_72103084)_(74244178_?)del	ADPGK, ARIH1 +19 more	Deletion	Tay-Sachs disease	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980531	GRCh37/hg19 15q23-24.1(chr15:70268937-74098081)x1	BBS4, NR2E3 +24 more	Copy number loss	not provided	GLikely pathogenic
Select item 685106	GRCh37/hg19 15q23(chr15:72373639-72577870)x1	CELF6, MYO9A +4 more	Copy number loss	not provided	GUncertain significance
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 43