ClinVar for Gene (Select 54469) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3192870	NM_019006.4(ZFAND6):c.424C>A (p.Pro142Thr)	ZFAND6 (P115T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192869	NM_019006.4(ZFAND6):c.253A>G (p.Met85Val)	ZFAND6 (M73V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192868	NM_019006.4(ZFAND6):c.172C>G (p.Leu58Val)	ZFAND6 (L58V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684765	GRCh37/hg19 15q25.1(chr15:80208164-81551831)x3	ABHD17C, ARNT2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2559133	NM_019006.4(ZFAND6):c.451A>T (p.Met151Leu)	ZFAND6 (M139L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512336	NM_019006.4(ZFAND6):c.348A>C (p.Glu116Asp)	ZFAND6 (E89D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	ISLR2, MESD +209 more	Copy number gain	not provided	GPathogenic
Select item 2472259	NM_019006.4(ZFAND6):c.296C>T (p.Ser99Phe)	ZFAND6 (S87F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425995	NC_000015.9:g.(?_78857986)_(81282132_?)dup	CHRNB4, CTSH +19 more	Duplication	not provided	GUncertain significance
Select item 2327606	NM_019006.4(ZFAND6):c.268G>A (p.Val90Ile)	ZFAND6 (V78I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284324	NM_019006.4(ZFAND6):c.539A>G (p.Asn180Ser)	ZFAND6 (N168S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279632	NM_019006.4(ZFAND6):c.425C>T (p.Pro142Leu)	ZFAND6 (P115L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241591	NM_019006.4(ZFAND6):c.304T>C (p.Ser102Pro)	ZFAND6 (S90P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1807897	GRCh37/hg19 15q25.1-25.2(chr15:79996626-82097796)x1	ABHD17C, ARNT2 +13 more	Copy number loss	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980537	GRCh37/hg19 15q25.1(chr15:79679772-80383301)x3	MINAR1, MTHFS +4 more	Copy number gain	not provided	GUncertain significance
Select item 831029	NC_000015.9:g.(?_80403807)_(81274523_?)dup	ABHD17C, ARNT2 +4 more	Duplication	Tyrosinemia type I	GUncertain significance
Select item 722160	NM_019006.4(ZFAND6):c.304T>G (p.Ser102Ala)	ZFAND6 (S102A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 564223	GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2	ABHD17C, ADAMTS7 +49 more	Copy number gain	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
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	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +154 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 58354	GRCh38/hg38 15q25.1(chr15:79552851-80526230)x3	ARNT2, ARNT2-DT +38 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 34