ClinVar for Gene (Select 51569) - ClinVar

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Links from Gene

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244229	NC_000013.10:g.(?_36878502)_(40325230_?)dup	ALG5, CCNA1 +16 more	Duplication	not provided	GUncertain significance
Select item 3186027	NM_016617.4(UFM1):c.211G>C (p.Gly71Arg)	UFM1 (G89R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	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 3049451	NM_016617.4(UFM1):c.2+4A>C	UFM1	Single nucleotide variant (intron variant)	UFM1-related disorder	GLikely benign
Select item 3034495	NM_016617.4(UFM1):c.50C>T (p.Pro17Leu)	UFM1 (P17L)	Single nucleotide variant (missense variant +2 more)	UFM1-related disorder	GLikely benign
Select item 3024786	NM_016617.4(UFM1):c.51G>A (p.Pro17=)	UFM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	CCDC70, CCNA1 +119 more	Copy number loss	not provided	GPathogenic
Select item 2971649	NM_016617.4(UFM1):c.118-19T>A	UFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2428600	NM_016617.4(UFM1):c.1A>G (p.Met1Val)	UFM1 (M1V)	Single nucleotide variant (missense variant +3 more)	Leukodystrophy, hypomyelinating, 14	GLikely pathogenic
Select item 2306055	NM_016617.4(UFM1):c.175C>A (p.Pro59Thr)	UFM1 (P57T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2193919	NM_016617.4(UFM1):c.180A>C (p.Ala60=)	UFM1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2121886	NM_016617.4(UFM1):c.59+112C>T	UFM1 (S18L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2113019	NM_016617.4(UFM1):c.59+93A>C	UFM1 (S12R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2090350	NM_016617.4(UFM1):c.59+69G>A	UFM1 (A4T)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1982787	NM_016617.4(UFM1):c.59+71T>G	UFM1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1946887	NM_016617.4(UFM1):c.118-18T>A	UFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1946254	NM_016617.4(UFM1):c.59+77A>G	UFM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1944376	NM_016617.4(UFM1):c.190+20_190+21del	UFM1	Deletion (intron variant)	not provided	GLikely benign
Select item 1934355	NM_016617.4(UFM1):c.59+104C>T	UFM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1879254	NM_016617.4(UFM1):c.190+44T>C	UFM1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1806581	NM_016617.4(UFM1):c.223C>T (p.Arg75Trp)	UFM1 (R73W +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1806529	NM_016617.4(UFM1):c.161G>A (p.Gly54Glu)	UFM1 (G52E +2 more)	Single nucleotide variant (missense variant +1 more)	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 1684234	NM_016617.4(UFM1):c.2+25A>T	UFM1	Single nucleotide variant (intron variant)	Leukodystrophy, hypomyelinating, 14	GBenign
Select item 1600480	NM_016617.4(UFM1):c.157+15del	UFM1	Deletion (intron variant)	not provided	GBenign
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	SPART, SPRYD7 +147 more	Copy number loss	not specified	GPathogenic
Select item 1527765	GRCh37/hg19 13q13.3(chr13:36064105-39230796)x1	ALG5, CCDC169 +15 more	Copy number loss	not specified	GPathogenic
Select item 1527763	GRCh37/hg19 13q13.3(chr13:35531798-39607778)	ALG5, CCDC169 +19 more	Copy number loss	not specified	GLikely pathogenic
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 1512215	NM_016617.4(UFM1):c.59+90C>G	UFM1 (R11G)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1464997	NM_016617.4(UFM1):c.59+121dup	UFM1 (L22fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1441840	NM_016617.4(UFM1):c.75A>G (p.Glu25=)	UFM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1420890	NM_016617.4(UFM1):c.59+109C>T	UFM1 (T17I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1353994	NM_016617.4(UFM1):c.59+75C>T	UFM1 (P6S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1170579	NM_016617.4(UFM1):c.118-20T>A	UFM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1168539	NM_016617.4(UFM1):c.59+71T>C	UFM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1140527	NM_016617.4(UFM1):c.59+190A>G	UFM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 1027884	NM_016617.4(UFM1):c.140G>A (p.Ser47Asn)	UFM1 (S47N +2 more)	Single nucleotide variant (missense variant +1 more)	Leukodystrophy, hypomyelinating, 14 +1 more	GUncertain significance
Select item 815581	GRCh37/hg19 13q13.3(chr13:38709027-39255408)x4	UFM1	Copy number gain	not provided	GLikely benign
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 559446	NM_016617.4(UFM1):c.241C>T (p.Arg81Cys)	UFM1 (R81C +2 more)	Single nucleotide variant (missense variant +2 more)	Leukodystrophy, hypomyelinating, 14	GPathogenic
Select item 495149	NM_001286704.2(UFM1):c.-273_-271del	LOC130009585, UFM1	Deletion	Leukodystrophy, hypomyelinating, 14 +1 more	GPathogenic/Likely pathogenic
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
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 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 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 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 154801	GRCh38/hg38 13q13.3(chr13:37624898-38458496)x3	LINC00571, LOC124855086 +6 more	Copy number gain	See cases	GPathogenic
Select item 154055	GRCh38/hg38 13q13.3(chr13:37156369-39010872)x3	FREM2, FREM2-AS1 +24 more	Copy number gain	See cases	GUncertain significance
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 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 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 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	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 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 148874	GRCh38/hg38 13q13.3(chr13:37976312-38558676)x3	LINC00437, LINC00571 +4 more	Copy number gain	See cases	GLikely benign
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 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	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 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	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 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 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 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 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 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 57641	GRCh38/hg38 13q13.3(chr13:37210304-39034199)x1	FREM2, FREM2-AS1 +25 more	Copy number loss	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 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	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

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Items: 84