ClinVar for Gene (Select 113622) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273624	NM_001394807.1(ADPRHL1):c.634C>G (p.Arg212Gly)	ADPRHL1 (R212G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273613	NM_001394807.1(ADPRHL1):c.1042C>T (p.Arg348Cys)	ADPRHL1 (R348C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273604	NM_001394807.1(ADPRHL1):c.620G>C (p.Cys207Ser)	ADPRHL1 (C207S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273593	NM_001394807.1(ADPRHL1):c.293G>A (p.Arg98Gln)	ADPRHL1 (R16Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273582	NM_001394807.1(ADPRHL1):c.92T>C (p.Met31Thr)	ADPRHL1 (M31T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242333	GRCh37/hg19 13q32.3-34(chr13:99892724-115108414)x3	ABHD13, ADPRHL1 +66 more	Copy number gain	not provided	GPathogenic
Select item 3148913	GRCh37/hg19 13q34(chr13:112071769-115107733)x3	ADPRHL1, ATP11A +23 more	Copy number gain	not provided	GUncertain significance
Select item 3090334	NM_001394807.1(ADPRHL1):c.890G>A (p.Arg297Gln)	ADPRHL1 (R215Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090323	NM_001394807.1(ADPRHL1):c.832A>G (p.Met278Val)	ADPRHL1 (M196V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090318	NM_001394807.1(ADPRHL1):c.827C>A (p.Ala276Asp)	ADPRHL1 (A276D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090307	NM_001394807.1(ADPRHL1):c.593G>A (p.Arg198Gln)	ADPRHL1 (R116Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090304	NM_001394807.1(ADPRHL1):c.576G>C (p.Trp192Cys)	ADPRHL1 (W110C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090249	NM_001394807.1(ADPRHL1):c.1021G>T (p.Asp341Tyr)	ADPRHL1 (D341Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063307	GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1	ABHD13, ADPRHL1 +54 more	Copy number loss	not specified	GPathogenic
Select item 3063302	GRCh37/hg19 13q33.2-34(chr13:106430837-114763645)x3	ABHD13, ADPRHL1 +39 more	Copy number gain	not specified	GUncertain significance
Select item 3063300	GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1	ABHD13, ADPRHL1 +53 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063291	GRCh37/hg19 13q33.2-34(chr13:105761074-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063290	GRCh37/hg19 13q33.1-34(chr13:104389334-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063287	GRCh37/hg19 13q33.2-34(chr13:106591678-115107733)x1	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 3024583	GRCh37/hg19 13q34(chr13:113158346-115091756)x1	ADPRHL1, ATP11A +21 more	Copy number loss	not provided	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ANKRD10, ANKRD10-IT1 +98 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	GPR18, GRTP1 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	TBC1D4, TEX29 +129 more	Copy number gain	not provided	GPathogenic
Select item 2644009	NM_001394807.1(ADPRHL1):c.120C>T (p.Ser40=)	ADPRHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644008	NM_001394807.1(ADPRHL1):c.387G>T (p.Gly129=)	ADPRHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644007	NM_001394807.1(ADPRHL1):c.1030G>A (p.Ala344Thr)	ADPRHL1 (A262T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2644006	NM_001394807.1(ADPRHL1):c.1104C>T (p.Asp368=)	ADPRHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644005	NM_001394807.1(ADPRHL1):c.1665C>A (p.Phe555Leu)	ADPRHL1 (F191L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2644004	NM_001394807.1(ADPRHL1):c.2907G>A (p.Arg969=)	ADPRHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644003	NM_001394807.1(ADPRHL1):c.3825C>T (p.Ser1275=)	ADPRHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644002	NM_001394807.1(ADPRHL1):c.5046A>G (p.Lys1682=)	ADPRHL1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2618231	NM_001394807.1(ADPRHL1):c.37G>A (p.Val13Ile)	ADPRHL1 (V13I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612303	NM_001394807.1(ADPRHL1):c.146C>T (p.Ser49Leu)	ADPRHL1 (S49L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606396	NM_001394807.1(ADPRHL1):c.172A>C (p.Asn58His)	ADPRHL1 (N58H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600073	NM_001394807.1(ADPRHL1):c.40G>A (p.Gly14Ser)	ADPRHL1 (G14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594253	NM_001394807.1(ADPRHL1):c.116G>A (p.Arg39His)	ADPRHL1 (R39H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588823	NM_001394807.1(ADPRHL1):c.242G>A (p.Arg81Gln)	ADPRHL1 (R81Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010165, LOC130010166 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
Select item 2554989	NM_001394807.1(ADPRHL1):c.1010A>G (p.Glu337Gly)	ADPRHL1 (E337G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520417	NM_001394807.1(ADPRHL1):c.889C>T (p.Arg297Trp)	ADPRHL1 (R215W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508740	NM_001394807.1(ADPRHL1):c.395C>T (p.Ala132Val)	ADPRHL1 (A50V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475171	NM_001394807.1(ADPRHL1):c.601C>A (p.Pro201Thr)	ADPRHL1 (P119T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465219	NM_001394807.1(ADPRHL1):c.767G>A (p.Arg256Lys)	ADPRHL1 (R256K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408689	NM_001394807.1(ADPRHL1):c.478G>A (p.Gly160Ser)	ADPRHL1 (G78S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394626	NM_001394807.1(ADPRHL1):c.199G>A (p.Glu67Lys)	ADPRHL1 (E67K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379052	NM_001394807.1(ADPRHL1):c.443G>A (p.Arg148Gln)	ADPRHL1 (R66Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359662	NM_001394807.1(ADPRHL1):c.425G>A (p.Arg142Gln)	ADPRHL1 (R142Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345274	NM_001394807.1(ADPRHL1):c.163G>A (p.Val55Met)	ADPRHL1 (V55M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324591	NM_001394807.1(ADPRHL1):c.614A>T (p.Glu205Val)	ADPRHL1 (E205V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320889	NM_001394807.1(ADPRHL1):c.992A>G (p.Gln331Arg)	ADPRHL1 (Q249R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291370	NM_001394807.1(ADPRHL1):c.481C>T (p.Arg161Trp)	ADPRHL1 (R79W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285636	NM_001394807.1(ADPRHL1):c.91A>C (p.Met31Leu)	ADPRHL1 (M31L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261967	NM_001394807.1(ADPRHL1):c.1060A>G (p.Asn354Asp)	ADPRHL1 (K272E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254394	NM_001394807.1(ADPRHL1):c.871T>C (p.Trp291Arg)	ADPRHL1 (W291R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253867	NM_001394807.1(ADPRHL1):c.547G>A (p.Ala183Thr)	ADPRHL1 (A101T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246612	NM_001394807.1(ADPRHL1):c.442C>T (p.Arg148Trp)	ADPRHL1 (R66W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243535	NM_001394807.1(ADPRHL1):c.424C>T (p.Arg142Trp)	ADPRHL1 (R142W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223993	NM_001394807.1(ADPRHL1):c.1031C>T (p.Ala344Val)	ADPRHL1 (A262V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206052	NM_001394807.1(ADPRHL1):c.820C>A (p.His274Asn)	ADPRHL1 (H192N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809298	GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3	ABHD13, ADPRHL1 +67 more	Copy number gain	not provided	GPathogenic
Select item 1808983	GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1707446	GRCh37/hg19 13q34(chr13:114086431-114753211)x3	ADPRHL1, ATP4B +7 more	Copy number gain	See cases	GUncertain significance
Select item 1707439	GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3	ABCC4, ABHD13 +93 more	Copy number gain	See cases	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1703542	GRCh37/hg19 13q34(chr13:110428062-115107733)	ADPRHL1, ANKRD10 +35 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 1527798	GRCh37/hg19 13q33.2-34(chr13:106450862-115107733)	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 1527797	GRCh37/hg19 13q33.2-34(chr13:106056749-115107733)	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527796	GRCh37/hg19 13q33.1-34(chr13:104545892-115107733)	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527791	GRCh37/hg19 13q32.3-34(chr13:100258328-115107733)	ABHD13, ADPRHL1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527788	GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)	ABCC4, ABHD13 +96 more	Copy number loss	not specified	GPathogenic
Select item 1527787	GRCh37/hg19 13q31.1-34(chr13:85037147-115107733)	ABCC4, ABHD13 +97 more	Copy number gain	not specified	GPathogenic
Select item 1527786	GRCh37/hg19 13q31.1-34(chr13:79370012-115107733)	DCUN1D2, ERCC5 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527785	GRCh37/hg19 13q22.3-34(chr13:78514567-115107733)	MIR18A, MIR19A +104 more	Copy number gain	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ACOD1, ADPRHL1 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1340720	GRCh37/hg19 13q34(chr13:113626234-115107733)x3	ADPRHL1, ATP4B +18 more	Copy number gain	not provided	GLikely pathogenic
Select item 1338738	NC_000013.11:g.109179481_114327244del	LOC130010213, LOC130010214 +261 more	Deletion	Factor VII deficiency +1 more	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 981484	Single allele	ABHD13, ADPRHL1 +55 more	Deletion	not provided	GPathogenic
Select item 979996	GRCh37/hg19 13q34(chr13:112069981-115107733)x3	ATP11AUN, UPF3A +23 more	Copy number gain	not provided	GLikely pathogenic
Select item 979994	GRCh37/hg19 13q33.2-34(chr13:106256198-115107733)x1	DCUN1D2, TMEM255B +42 more	Copy number loss	not provided	GPathogenic
Select item 815627	GRCh37/hg19 13q34(chr13:113990475-114264517)x3	GRTP1, TMCO3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815614	GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	CDC16, NALCN +142 more	Copy number loss	not provided	GPathogenic
Select item 791184	NM_001394807.1(ADPRHL1):c.147G>A (p.Ser49=)	ADPRHL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 790856	NM_001394807.1(ADPRHL1):c.158G>A (p.Trp53Ter)	ADPRHL1 (W53*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 721864	NM_001394807.1(ADPRHL1):c.20C>T (p.Ala7Val)	ADPRHL1 (A7V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 717321	NM_001394807.1(ADPRHL1):c.846C>T (p.Asp282=)	ADPRHL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 687981	GRCh37/hg19 13q33.3-34(chr13:109203109-115107733)x3	ADPRHL1, ANKRD10 +36 more	Copy number gain	not provided	GUncertain significance
Select item 687326	GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 687002	GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3	ABCC4, ABHD13 +86 more	Copy number gain	not provided	GUncertain significance
Select item 686178	GRCh37/hg19 13q34(chr13:111568865-115107733)x1	ADPRHL1, ARHGEF7 +25 more	Copy number loss	not provided	GPathogenic

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