ClinVar for Gene (Select 26959) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	COG5, DLD +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_012257.4(HBP1):c.*745T>C	COG5, HBP1	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 911616	NM_012257.4(HBP1):c.*659T>C	COG5, HBP1	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 911615	NM_012257.4(HBP1):c.*636C>T	COG5, HBP1	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 911614	NM_012257.4(HBP1):c.*617C>A	COG5, HBP1	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 911613	NM_012257.4(HBP1):c.*343C>T	COG5, HBP1	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 908663	NM_012257.4(HBP1):c.*842A>G	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_012257.4(HBP1):c.*1088C>T	COG5, HBP1	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 358439	NM_012257.4(HBP1):c.1087_1088insAA	COG5, HBP1	Insertion (3 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 358438	NM_012257.4(HBP1):c.*974G>A	COG5, HBP1	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 358437	NM_012257.4(HBP1):c.809_812dup	COG5, HBP1	Duplication (3 prime UTR variant)	Congenital disorder of glycosylation	GLikely benign
Select item 358436	NM_012257.4(HBP1):c.*601A>G	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_012257.4(HBP1):c.*365T>C	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	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 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

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Links from Gene

Items: 59