33751[HGNC] - ClinVar

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Items: 74

	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 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 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 150360	GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1	ALG5, ALOX5AP +214 more	Copy number loss	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 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 57640	GRCh38/hg38 13q13.3-14.11(chr13:35232476-41375955)x1	ALG5, CCDC169 +146 more	Copy number loss	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LOC130009665, LOC130009659 +612 more	Copy number loss	See cases	GPathogenic
Select item 152159	GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	LOC126861769, LOC126861770 +437 more	Copy number loss	See cases	GPathogenic
Select item 1338846	GRCh38/hg38 13q13.3(chr13:38940342-39433293)	LHFPL6, LOC105370169 +11 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 3199803	NM_001012754.4(NHLRC3):c.5C>G (p.Ala2Gly)	NHLRC3 (A2G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199797	NM_001012754.4(NHLRC3):c.13T>G (p.Trp5Gly)	NHLRC3 (W5G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199800	NM_001012754.4(NHLRC3):c.43C>T (p.Leu15Phe)	NHLRC3 (L15F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199796	NM_001012754.4(NHLRC3):c.106G>A (p.Ala36Thr)	NHLRC3 (A36T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299641	NM_001012754.4(NHLRC3):c.136T>C (p.Tyr46His)	NHLRC3 (Y46H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531534	NM_001012754.4(NHLRC3):c.151G>T (p.Gly51Cys)	NHLRC3 (G51C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250234	NM_001012754.4(NHLRC3):c.181G>A (p.Gly61Arg)	NHLRC3 (G61R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386604	NM_001012754.4(NHLRC3):c.212T>C (p.Leu71Pro)	NHLRC3 (L71P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199798	NM_001012754.4(NHLRC3):c.221T>C (p.Leu74Ser)	NHLRC3 (L74S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515363	NM_001012754.4(NHLRC3):c.320C>T (p.Pro107Leu)	NHLRC3 (P107L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327982	NM_001012754.4(NHLRC3):c.359C>A (p.Ser120Tyr)	NHLRC3 (S120Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550498	NM_001012754.4(NHLRC3):c.376G>A (p.Val126Ile)	NHLRC3 (V126I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299642	NM_001012754.4(NHLRC3):c.407A>G (p.Lys136Arg)	NHLRC3 (K136R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2239540	NM_001012754.4(NHLRC3):c.446G>C (p.Gly149Ala)	NHLRC3 (G149A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3199801	NM_001012754.4(NHLRC3):c.503A>G (p.Glu168Gly)	NHLRC3 (E168G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3199802	NM_001012754.4(NHLRC3):c.509A>G (p.Tyr170Cys)	NHLRC3 (Y170C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2461147	NM_001012754.4(NHLRC3):c.575A>G (p.Lys192Arg)	NHLRC3 (K192R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3299640	NM_001012754.4(NHLRC3):c.684G>T (p.Trp228Cys)	NHLRC3 (W228C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199804	NM_001012754.4(NHLRC3):c.819T>G (p.Ile273Met)	NHLRC3 (I273M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272539	NM_001012754.4(NHLRC3):c.869T>A (p.Val290Glu)	NHLRC3 (V223E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2567415	NM_001012754.4(NHLRC3):c.901A>G (p.Thr301Ala)	NHLRC3 (T301A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272382	NM_001012754.4(NHLRC3):c.904A>C (p.Ile302Leu)	NHLRC3 (I302L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199805	NM_001012754.4(NHLRC3):c.909A>C (p.Gln303His)	NHLRC3 (Q303H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344686	NM_001012754.4(NHLRC3):c.948C>G (p.Asp316Glu)	NHLRC3 (D249E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606438	NM_001012754.4(NHLRC3):c.1015A>G (p.Asn339Asp)	NHLRC3 (N339D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244229	NC_000013.10:g.(?_36878502)_(40325230_?)dup	ALG5, CCNA1 +16 more	Duplication	not provided	GUncertain significance
Select item 3063311	GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3	AKAP11, ALG11 +117 more	Copy number gain	not specified	GPathogenic
Select item 3063306	GRCh37/hg19 13q13.2-14.11(chr13:35060982-44540846)x1	AKAP11, ALG5 +42 more	Copy number loss	not specified	GUncertain significance
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	ITM2B, KBTBD6 +119 more	Copy number loss	not provided	GPathogenic
Select item 1809134	GRCh37/hg19 13q13.3-14.11(chr13:35501428-40901176)x1	ALG5, CCDC169 +22 more	Copy number loss	not provided	GPathogenic
Select item 1808770	GRCh37/hg19 13q13.3-14.11(chr13:36148057-41670428)x3	ALG5, CCDC169 +26 more	Copy number gain	not provided	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	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 1527767	GRCh37/hg19 13q13.3-14.11(chr13:39428367-43608103)	AKAP11, COG6 +21 more	Copy number loss	not specified	GUncertain significance
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	SPART, SPRYD7 +147 more	Copy number loss	not specified	GPathogenic
Select item 1527762	GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)	AKAP11, ALG11 +127 more	Copy number loss	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 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 979367	GRCh37/hg19 13q13.3-14.11(chr13:39531602-40152084)x1	LHFPL6, NHLRC3 +2 more	Copy number loss	not provided	GUncertain significance
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	GPathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	CRYL1, CSNK1A1L +332 more	Copy number gain	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic

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Items: 74