ADPRHL1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 172

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	LOC124946344, LOC124946345 +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	LOC130010101, LOC130010102 +705 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	ABCC4, ABHD13 +663 more	Copy number gain	See cases	GPathogenic
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	ABCC4, ABHD13 +638 more	Copy number gain	See cases	GPathogenic
Select item 150277	GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3	DOCK9-DT, EFNB2 +544 more	Copy number gain	See cases	GPathogenic
Select item 59921	GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3	ABHD13, ADPRHL1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59924	GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	LOC132090158, LOC132090159 +395 more	Copy number gain	See cases	GPathogenic
Select item 57684	GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1	ABHD13, ADPRHL1 +369 more	Copy number loss	See cases	GPathogenic
Select item 152824	GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3	LOC130010172, LOC130010173 +367 more	Copy number gain	See cases	GPathogenic
Select item 147642	GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3	ABHD13, ADPRHL1 +360 more	Copy number gain	See cases	GPathogenic
Select item 57685	GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1	GAS6-AS1, GAS6-DT +363 more	Copy number loss	See cases	GPathogenic
Select item 148757	GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1	LOC121468007, LOC121838584 +339 more	Copy number loss	See cases	GPathogenic
Select item 57709	GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 57710	GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 155263	GRCh38/hg38 13q33.2-34(chr13:104968135-114340331)x1	ABHD13, ADPRHL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 155489	GRCh38/hg38 13q33.2-34(chr13:105423935-114342258)x3	ABHD13, ADPRHL1 +325 more	Copy number gain	See cases	GUncertain significance
Select item 151756	GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1	LOC116268457, LOC121468007 +321 more	Copy number loss	See cases	GPathogenic
Select item 57471	GRCh38/hg38 13q33.2-34(chr13:106157165-114327173)x1	ABHD13, ADPRHL1 +318 more	Copy number loss	See cases	GPathogenic
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 148614	GRCh38/hg38 13q33.3-34(chr13:107075477-114340331)x1	ABHD13, ADPRHL1 +302 more	Copy number loss	See cases	GPathogenic
Select item 161056	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 33799	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 56998	GRCh38/hg38 13q33.3-34(chr13:108743171-114327173)x1	ADPRHL1, ANKRD10 +271 more	Copy number loss	See cases	GPathogenic
Select item 1338738	NC_000013.11:g.109179481_114327244del	LOC130010213, LOC130010214 +261 more	Deletion	Factor VII deficiency +1 more	GPathogenic
Select item 155035	GRCh38/hg38 13q34(chr13:110857896-114342258)x1	ADPRHL1, ANKRD10 +179 more	Copy number loss	See cases	GPathogenic
Select item 148303	GRCh38/hg38 13q34(chr13:111118651-114340331)x3	MCF2L, MCF2L-AS1 +158 more	Copy number gain	See cases	GLikely pathogenic
Select item 152704	GRCh38/hg38 13q34(chr13:111200986-114340331)x1	ADPRHL1, ARHGEF7 +149 more	Copy number loss	See cases	GPathogenic
Select item 148895	GRCh38/hg38 13q34(chr13:111355741-114340331)x1	ADPRHL1, ATP11A +143 more	Copy number loss	See cases	GPathogenic
Select item 59927	GRCh38/hg38 13q34(chr13:111439396-114327173)x3	ADPRHL1, ATP11A +141 more	Copy number gain	See cases	GPathogenic
Select item 57714	GRCh38/hg38 13q34(chr13:111541166-113671678)x1	ADPRHL1, ATP11A +83 more	Copy number loss	See cases	GPathogenic
Select item 59929	GRCh38/hg38 13q34(chr13:112292922-113636272)x3	ADPRHL1, ATP11A +68 more	Copy number gain	See cases	GPathogenic
Select item 58283	GRCh38/hg38 13q34(chr13:113328389-113671476)x3	ADPRHL1, ATP4B +17 more	Copy number gain	See cases	GUncertain significance
Select item 151284	GRCh38/hg38 13q34(chr13:113379795-113422629)x3	ADPRHL1, LOC124946346 +2 more	Copy number gain	See cases	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 2644003	NM_001394807.1(ADPRHL1):c.3825C>T (p.Ser1275=)	ADPRHL1	Single nucleotide variant (synonymous 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 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 2644006	NM_001394807.1(ADPRHL1):c.1104C>T (p.Asp368=)	ADPRHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 717321	NM_001394807.1(ADPRHL1):c.846C>T (p.Asp282=)	ADPRHL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2644008	NM_001394807.1(ADPRHL1):c.387G>T (p.Gly129=)	ADPRHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2394626	NM_001394807.1(ADPRHL1):c.199G>A (p.Glu67Lys)	ADPRHL1 (E67K)	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 2345274	NM_001394807.1(ADPRHL1):c.163G>A (p.Val55Met)	ADPRHL1 (V55M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790856	NM_001394807.1(ADPRHL1):c.158G>A (p.Trp53Ter)	ADPRHL1 (W53*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 791184	NM_001394807.1(ADPRHL1):c.147G>A (p.Ser49=)	ADPRHL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2644009	NM_001394807.1(ADPRHL1):c.120C>T (p.Ser40=)	ADPRHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3273582	NM_001394807.1(ADPRHL1):c.92T>C (p.Met31Thr)	ADPRHL1 (M31T)	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 2600073	NM_001394807.1(ADPRHL1):c.40G>A (p.Gly14Ser)	ADPRHL1 (G14S)	Single nucleotide variant (missense variant)	not specified	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 721864	NM_001394807.1(ADPRHL1):c.20C>T (p.Ala7Val)	ADPRHL1 (A7V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3242333	GRCh37/hg19 13q32.3-34(chr13:99892724-115108414)x3	ABHD13, ADPRHL1 +66 more	Copy number gain	not provided	GPathogenic

<< First< Prev

Page of 2