21517[HGNC] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 154561	GRCh38/hg38 7q22.3-31.1(chr7:105575647-107949294)x1	ATXN7L1, BCAP29 +104 more	Copy number loss	See cases	GUncertain significance
Select item 60284	GRCh38/hg38 7q22.3-31.1(chr7:106261939-111228036)x1	DUS4L, DUS4L-BCAP29 +92 more	Copy number loss	See cases	GPathogenic
Select item 638408	NM_181581.3(DUS4L):c.-349_-348insGGCCC	DUS4L-BCAP29, COG5 +1 more	Insertion (frameshift variant +2 more)	COG5-congenital disorder of glycosylation	GLikely pathogenic
Select item 1947462	NM_181581.3(DUS4L):c.-348C>T	COG5, DUS4L +1 more	Single nucleotide variant (synonymous variant +2 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 1983438	NM_181581.3(DUS4L):c.-347C>T	COG5, DUS4L +1 more (G6E)	Single nucleotide variant (missense variant +2 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 3042839	NM_181581.3(DUS4L):c.-345G>C	COG5, DUS4L +1 more	Single nucleotide variant (synonymous variant +2 more)	COG5-related disorder	GLikely benign
Select item 1619364	NM_181581.3(DUS4L):c.-342C>T	COG5, DUS4L +1 more	Single nucleotide variant (synonymous variant +2 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 1206117	NM_181581.3(DUS4L):c.-341A>C	COG5, DUS4L +1 more (V4G)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 817906	NM_181581.3(DUS4L):c.-339_-338del	DUS4L-BCAP29, COG5 +1 more	Deletion (frameshift variant +2 more)	COG5-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 1417312	NM_181581.3(DUS4L):c.-334C>T	COG5, DUS4L +1 more (G2S)	Single nucleotide variant (missense variant +2 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2153933	NM_181581.3(DUS4L):c.-332A>C	COG5, DUS4L +1 more (M1R)	Single nucleotide variant (missense variant +2 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 911803	NM_181581.3(DUS4L):c.-332A>T	COG5, DUS4L +1 more (M1K)	Single nucleotide variant (missense variant +2 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 358480	NM_181581.3(DUS4L):c.-325C>T	COG5, DUS4L +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	COG5-related disorder +2 more	GBenign
Select item 3048548	NM_181581.3(DUS4L):c.-324A>G	COG5, DUS4L +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	COG5-related disorder	GLikely benign
Select item 389379	NM_181581.3(DUS4L):c.-323G>A	DUS4L-BCAP29, COG5 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	COG5-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 358481	NM_181581.3(DUS4L):c.-301T>A	COG5, DUS4L +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 511277	NM_181581.3(DUS4L):c.-297C>A	COG5, DUS4L +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 507009	NM_181581.3(DUS4L):c.-281G>T	DUS4L-BCAP29, COG5 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 908846	NM_181581.3(DUS4L):c.-275C>G	COG5, DUS4L +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 358482	NM_181581.3(DUS4L):c.-275C>T	COG5, DUS4L-BCAP29 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 908847	NM_181581.3(DUS4L):c.-186G>A	COG5, DUS4L +2 more	Single nucleotide variant (5 prime UTR variant +2 more)	COG5-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 358483	NM_181581.3(DUS4L):c.-162C>A	DUS4L-BCAP29, COG5 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 358484	NM_181581.3(DUS4L):c.-111+60_-111+61del	COG5, DUS4L +1 more	Deletion (intron variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 358485	NM_181581.3(DUS4L):c.-111+71G>A	COG5, DUS4L +1 more	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 358486	NM_181581.3(DUS4L):c.-111+72G>C	COG5, DUS4L +1 more	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 908848	NM_181581.3(DUS4L):c.-111+78G>C	COG5, DUS4L +1 more	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 358487	NM_181581.3(DUS4L):c.-111+131C>T	COG5, DUS4L +1 more	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 358488	NM_181581.3(DUS4L):c.-111+147G>C	COG5, DUS4L +1 more	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 358489	NM_181581.3(DUS4L):c.-111+167G>C	COG5, DUS4L +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 358490	NM_181581.3(DUS4L):c.-110-94C>A	COG5, DUS4L +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3086227	NM_181581.3(DUS4L):c.20A>G (p.Gln7Arg)	DUS4L, DUS4L-BCAP29 (Q7R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274031	NM_181581.3(DUS4L):c.43A>G (p.Lys15Glu)	DUS4L, DUS4L-BCAP29 (K15E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551260	NM_181581.3(DUS4L):c.172A>G (p.Met58Val)	DUS4L, DUS4L-BCAP29 (M58V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401840	NM_181581.3(DUS4L):c.184G>A (p.Ala62Thr)	DUS4L, DUS4L-BCAP29 (A62T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215451	NM_181581.3(DUS4L):c.230C>T (p.Thr77Ile)	DUS4L, DUS4L-BCAP29 (T77I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407872	NM_181581.3(DUS4L):c.307G>A (p.Val103Ile)	DUS4L, DUS4L-BCAP29 (V103I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552616	NM_181581.3(DUS4L):c.366G>C (p.Met122Ile)	DUS4L, DUS4L-BCAP29 (M122I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086228	NM_181581.3(DUS4L):c.463G>C (p.Val155Leu)	DUS4L, DUS4L-BCAP29 (V155L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466030	NM_181581.3(DUS4L):c.631A>G (p.Ile211Val)	DUS4L, DUS4L-BCAP29 (I211V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086230	NM_181581.3(DUS4L):c.655A>G (p.Ile219Val)	DUS4L, DUS4L-BCAP29 (I219V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274032	NM_181581.3(DUS4L):c.783C>G (p.Ile261Met)	DUS4L, DUS4L-BCAP29 (I261M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086231	NM_181581.3(DUS4L):c.784T>C (p.Trp262Arg)	DUS4L, DUS4L-BCAP29 (W262R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086232	NM_181581.3(DUS4L):c.872C>T (p.Ser291Leu)	DUS4L, DUS4L-BCAP29 (S291L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3245840	NC_000007.13:g.(?_102937907)_(108155935_?)del	LAMB4, LHFPL3 +29 more	Deletion	not provided	GPathogenic
Select item 3245787	NC_000007.13:g.(?_107167662)_(107303900_?)del	BCAP29, COG5 +2 more	Deletion	COG5-congenital disorder of glycosylation	GPathogenic
Select item 2685260	GRCh37/hg19 7q22.3-31.1(chr7:104536649-109624996)x1	ATXN7L1, BCAP29 +26 more	Copy number loss	not provided	GPathogenic
Select item 2684502	GRCh37/hg19 7q22.3(chr7:106973031-107292912)x3	BCAP29, COG5 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2427609	NC_000007.13:g.(?_102937907)_(107643330_?)dup	ATXN7L1, BCAP29 +26 more	Duplication	not provided	GUncertain significance
Select item 2425577	NC_000007.13:g.(?_107188536)_(107204434_?)del	COG5, DUS4L	Deletion	COG5-congenital disorder of glycosylation	GPathogenic
Select item 2424385	NC_000007.13:g.(?_104456677)_(108155935_?)del	COG5, DLD +23 more	Deletion	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 1460265	NC_000007.13:g.(?_107002458)_(107204434_?)del	COG5, DUS4L +1 more	Deletion	COG5-congenital disorder of glycosylation	GPathogenic
Select item 1457841	NC_000007.13:g.(?_107204228)_(107204434_?)del	DUS4L, COG5	Deletion	COG5-congenital disorder of glycosylation	GPathogenic
Select item 815014	GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1	TMEM168, LAMB4 +59 more	Copy number loss	not provided	GPathogenic
Select item 805920	GRCh37/hg19 7q22.3-31.1(chr7:104506008-107408857)	DUS4L, GPR22 +18 more	Copy number loss	See cases	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563280	GRCh37/hg19 7q22.3(chr7:107156793-107222725)x1	COG5, BCAP29 +1 more	Copy number loss	not provided	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 70