ClinVar for Gene (Select 123228) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317458	NM_145204.4(SENP8):c.7C>G (p.Pro3Ala)	SENP8 (P3A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317456	NM_145204.4(SENP8):c.40C>T (p.Arg14Trp)	SENP8 (R14W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159998	NM_145204.4(SENP8):c.417C>G (p.Phe139Leu)	SENP8 (F139L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591779	NM_145204.4(SENP8):c.47C>T (p.Ser16Leu)	SENP8 (S16L)	Single nucleotide variant (missense variant)	not specified	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 2387065	NM_145204.4(SENP8):c.341G>A (p.Ser114Asn)	SENP8 (S114N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347952	NM_145204.4(SENP8):c.151G>A (p.Val51Ile)	SENP8 (V51I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275729	NM_145204.4(SENP8):c.281C>A (p.Ser94Tyr)	SENP8 (S94Y)	Single nucleotide variant (missense variant)	not specified	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 984568	NM_145204.4(SENP8):c.606G>A (p.Trp202Ter)	SENP8 (W202*)	Single nucleotide variant (nonsense)	Neurodevelopmental abnormality	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
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 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 57140	GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1	ADPGK, ADPGK-AS1 +197 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 25