ClinVar for Gene (Select 26959) - ClinVar

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

Links from Gene

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283581	NM_012257.4(HBP1):c.452G>C (p.Arg151Pro)	HBP1 (R151P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283580	NM_012257.4(HBP1):c.425C>G (p.Thr142Ser)	HBP1 (T152S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283578	NM_012257.4(HBP1):c.1217C>T (p.Ser406Leu)	HBP1 (S416L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283577	NM_012257.4(HBP1):c.838T>G (p.Leu280Val)	HBP1 (L290V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283576	NM_012257.4(HBP1):c.451C>T (p.Arg151Cys)	HBP1 (R161C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283575	NM_012257.4(HBP1):c.755G>A (p.Gly252Asp)	HBP1 (G252D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245840	NC_000007.13:g.(?_102937907)_(108155935_?)del	ATXN7L1, BCAP29 +29 more	Deletion	not provided	GPathogenic
Select item 3104412	NM_012257.4(HBP1):c.989T>C (p.Ile330Thr)	HBP1 (I340T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104411	NM_012257.4(HBP1):c.728G>A (p.Cys243Tyr)	HBP1 (C243Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104410	NM_012257.4(HBP1):c.376A>G (p.Met126Val)	HBP1 (M136V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104409	NM_012257.4(HBP1):c.1540C>T (p.His514Tyr)	COG5, HBP1 (H514Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3104408	NM_012257.4(HBP1):c.1539A>T (p.Gln513His)	COG5, HBP1 (Q513H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3104407	NM_012257.4(HBP1):c.1145C>T (p.Ser382Phe)	HBP1 (S382F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104405	NM_012257.4(HBP1):c.1009C>G (p.Pro337Ala)	HBP1 (P337A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2515940	NM_012257.4(HBP1):c.715A>G (p.Arg239Gly)	HBP1 (R239G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476012	NM_012257.4(HBP1):c.457C>T (p.Pro153Ser)	HBP1 (P153S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458790	NM_012257.4(HBP1):c.1267T>G (p.Ser423Ala)	HBP1 (S423A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427609	NC_000007.13:g.(?_102937907)_(107643330_?)dup	ATXN7L1, BCAP29 +26 more	Duplication	not provided	GUncertain significance
Select item 2424385	NC_000007.13:g.(?_104456677)_(108155935_?)del	ATXN7L1, BCAP29 +23 more	Deletion	not provided	GPathogenic
Select item 2355959	NM_012257.4(HBP1):c.1167A>C (p.Gln389His)	HBP1 (Q399H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344308	NM_012257.4(HBP1):c.523C>T (p.Pro175Ser)	HBP1 (P175S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337695	NM_012257.4(HBP1):c.164A>G (p.Glu55Gly)	HBP1 (E55G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328362	NM_012257.4(HBP1):c.1291C>T (p.Pro431Ser)	HBP1 (P431S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327976	NM_012257.4(HBP1):c.1532C>T (p.Ser511Leu)	COG5, HBP1 (S511L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2326606	NM_012257.4(HBP1):c.780T>A (p.Asp260Glu)	HBP1 (D270E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322347	NM_012257.4(HBP1):c.40G>A (p.Val14Ile)	HBP1 (V14I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305802	NM_012257.4(HBP1):c.149G>A (p.Cys50Tyr)	HBP1 (C60Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294854	NM_012257.4(HBP1):c.1271G>A (p.Gly424Glu)	HBP1 (G424E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271690	NM_012257.4(HBP1):c.1021G>A (p.Asp341Asn)	HBP1 (D341N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239984	NM_012257.4(HBP1):c.1130G>A (p.Arg377His)	HBP1 (R377H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238116	NM_012257.4(HBP1):c.11A>G (p.Glu4Gly)	HBP1 (E4G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215097	NM_012257.4(HBP1):c.1519A>G (p.Thr507Ala)	HBP1 (T507A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 1277741	NM_012257.4(HBP1):c.-16+663G>C	HBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 911617	NM_006348.5(COG5):c.*1340A>G	COG5, HBP1	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 911616	NM_006348.5(COG5):c.*1426A>G	COG5, HBP1	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 911615	NM_006348.5(COG5):c.*1449G>A	COG5, HBP1	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 911614	NM_006348.5(COG5):c.*1468G>T	COG5, HBP1	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 911613	NM_006348.5(COG5):c.*1742G>A	COG5, HBP1	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 908663	NM_006348.5(COG5):c.*1243T>C	COG5, HBP1	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
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 815013	GRCh37/hg19 7q22.3(chr7:106596321-106910550)x1	PRKAR2B, COG5 +1 more	Copy number loss	not provided	GUncertain significance
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 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 358440	NM_006348.5(COG5):c.*997G>A	COG5, HBP1	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 358439	NM_006348.5(COG5):c.997_998insTT	COG5, HBP1	Insertion (3 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 358438	NM_006348.5(COG5):c.*1111C>T	COG5, HBP1	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 358437	NM_006348.5(COG5):c.1274_1277dup	COG5, HBP1	Duplication (3 prime UTR variant)	Congenital disorder of glycosylation	GLikely benign
Select item 358436	NM_006348.5(COG5):c.*1484T>C	COG5, HBP1	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 358435	NM_012257.4(HBP1):c.*448C>T	COG5, HBP1	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 358434	NM_006348.5(COG5):c.*1720A>G	COG5, HBP1	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	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 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 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 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
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 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 66