PDE12[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +217 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	ABHD6, ACOX2 +481 more	Copy number loss	See cases	GPathogenic
Select item 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +154 more	Copy number loss	See cases	GPathogenic
Select item 2515191	NM_177966.7(PDE12):c.31C>T (p.Leu11Phe)	LOC129936928, PDE12 (L11F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258317	NM_177966.7(PDE12):c.101C>T (p.Ala34Val)	LOC129936928, PDE12 (A34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210628	NM_177966.7(PDE12):c.182A>G (p.Lys61Arg)	PDE12 (K61R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551357	NM_177966.7(PDE12):c.187A>G (p.Met63Val)	PDE12 (M63V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329886	NM_177966.7(PDE12):c.206A>C (p.Glu69Ala)	PDE12 (E69A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210629	NM_177966.7(PDE12):c.235G>A (p.Ala79Thr)	PDE12 (A79T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568782	NM_177966.7(PDE12):c.242A>G (p.Asn81Ser)	PDE12 (N81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210630	NM_177966.7(PDE12):c.253G>A (p.Gly85Ser)	PDE12 (G85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480256	NM_177966.7(PDE12):c.281A>G (p.Lys94Arg)	PDE12 (K94R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210631	NM_177966.7(PDE12):c.379T>G (p.Tyr127Asp)	PDE12 (Y127D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210632	NM_177966.7(PDE12):c.382C>G (p.Arg128Gly)	PDE12 (R128G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210633	NM_177966.7(PDE12):c.499C>G (p.Leu167Val)	PDE12 (L167V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264630	NM_177966.7(PDE12):c.503A>G (p.Gln168Arg)	PDE12 (Q168R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210634	NM_177966.7(PDE12):c.515A>G (p.Tyr172Cys)	PDE12 (Y172C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210635	NM_177966.7(PDE12):c.704A>G (p.Tyr235Cys)	LOC129936929, PDE12 (Y235C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210636	NM_177966.7(PDE12):c.728G>C (p.Gly243Ala)	LOC129936929, PDE12 (G243A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210637	NM_177966.7(PDE12):c.760G>A (p.Asp254Asn)	LOC129936929, PDE12 (D254N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2215498	NM_177966.7(PDE12):c.833C>A (p.Thr278Asn)	PDE12 (T278N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207897	NM_177966.7(PDE12):c.933G>T (p.Glu311Asp)	PDE12 (E311D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545142	NM_177966.7(PDE12):c.964G>C (p.Ala322Pro)	PDE12 (A322P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241586	NM_177966.7(PDE12):c.995A>G (p.Gln332Arg)	PDE12 (Q332R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357697	NM_177966.7(PDE12):c.1085T>G (p.Val362Gly)	PDE12 (V362G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210623	NM_177966.7(PDE12):c.1177C>T (p.Leu393Phe)	PDE12 (L393F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210624	NM_177966.7(PDE12):c.1211C>T (p.Ala404Val)	PDE12 (A404V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540260	NM_177966.7(PDE12):c.1232A>G (p.His411Arg)	PDE12 (H411R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345218	NM_177966.7(PDE12):c.1270G>A (p.Ala424Thr)	PDE12 (A424T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526321	NM_177966.7(PDE12):c.1297T>A (p.Ser433Thr)	PDE12 (S433T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526322	NM_177966.7(PDE12):c.1298C>A (p.Ser433Tyr)	PDE12 (S433Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210625	NM_177966.7(PDE12):c.1309G>C (p.Val437Leu)	PDE12 (V437L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242943	NM_177966.7(PDE12):c.1413G>A (p.Met471Ile)	PDE12 (M471I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3210626	NM_177966.7(PDE12):c.1429C>T (p.His477Tyr)	PDE12 (H477Y)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3210627	NM_177966.7(PDE12):c.1651A>G (p.Asn551Asp)	PDE12 (N551D)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2549989	NM_177966.7(PDE12):c.1825A>G (p.Lys609Glu)	PDE12 (K609E)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2462602	NM_001660.4(ARF4):c.290G>A (p.Arg97His)	ARF4, PDE12 (R97H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128326	NM_001660.4(ARF4):c.289C>A (p.Arg97Ser)	ARF4, PDE12 (R97S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081692	NM_152678.3(DENND6A):c.1600C>G (p.Leu534Val)	DENND6A, PDE12 (L534V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467743	NM_152678.3(DENND6A):c.1349C>T (p.Pro450Leu)	DENND6A, PDE12 (P450L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322620	NM_152678.3(DENND6A):c.1342A>G (p.Ile448Val)	DENND6A, PDE12 (I448V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364732	NM_152678.3(DENND6A):c.1327C>G (p.Leu443Val)	DENND6A, PDE12 (L443V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081689	NM_152678.3(DENND6A):c.1069T>G (p.Phe357Val)	DENND6A, PDE12 (F357V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529928	NM_152678.3(DENND6A):c.1049T>C (p.Ile350Thr)	DENND6A, PDE12 (I350T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081694	NM_152678.3(DENND6A):c.898C>G (p.Pro300Ala)	DENND6A, PDE12 (P300A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 2423438	NC_000003.11:g.(?_57130421)_(58520833_?)del	ABHD6, ACOX2 +15 more	Deletion	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 685671	GRCh37/hg19 3p14.3-14.1(chr3:57076136-65716956)x1	ABHD6, ACOX2 +34 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic

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Items: 51