ClinVar for Gene (Select 56965) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304407	NM_001323532.2(PARP6):c.1873A>T (p.Thr625Ser)	PARP6 (T606S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208799	NM_001323532.2(PARP6):c.743G>A (p.Arg248Gln)	PARP6 (R248Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3208798	NM_001323532.2(PARP6):c.742C>T (p.Arg248Trp)	PARP6 (R248W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3208797	NM_001323532.2(PARP6):c.689G>A (p.Ser230Asn)	PARP6 (S230N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208796	NM_001323532.2(PARP6):c.269G>A (p.Arg90Gln)	PARP6 (R90Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208795	NM_001323532.2(PARP6):c.1631C>G (p.Thr544Ser)	PARP6 (T524S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524802	NM_001323532.2(PARP6):c.923G>A (p.Arg308His)	PARP6 (R308H +1 more)	Single nucleotide variant (missense variant +1 more)	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 2390895	NM_001323532.2(PARP6):c.280A>G (p.Ile94Val)	PARP6 (I94V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389621	NM_001323532.2(PARP6):c.199G>A (p.Val67Met)	PARP6 (V67M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387800	NM_001323532.2(PARP6):c.38C>T (p.Ser13Leu)	PARP6 (S13L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348236	NM_001323532.2(PARP6):c.805G>A (p.Val269Ile)	PARP6 (V249I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332806	NM_001323532.2(PARP6):c.841A>G (p.Thr281Ala)	PARP6 (T261A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299267	NM_001323532.2(PARP6):c.337A>G (p.Ile113Val)	PARP6 (I113V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294587	NM_001323532.2(PARP6):c.755T>C (p.Leu252Ser)	PARP6 (L252S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2291801	NM_001323532.2(PARP6):c.172A>G (p.Ile58Val)	PARP6 (I58V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266403	NM_001323532.2(PARP6):c.758T>C (p.Val253Ala)	PARP6 (V253A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214976	NM_001323532.2(PARP6):c.139G>A (p.Val47Met)	PARP6 (V47M)	Single nucleotide variant (missense variant +1 more)	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 1199248	NM_001323532.2(PARP6):c.1687T>C (p.Cys563Arg)	PARP6 (C543R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 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: 36