10466[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 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 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 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 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 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 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 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 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 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 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 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 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 358437	NM_012257.4(HBP1):c.809_812dup	COG5, HBP1	Duplication (3 prime UTR variant)	Congenital disorder of glycosylation	GLikely benign
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 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 358439	NM_012257.4(HBP1):c.1087_1088insAA	COG5, HBP1	Insertion (3 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
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 358441	NM_006348.5(COG5):c.*986G>A	COG5	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 908664	NM_006348.5(COG5):c.*867A>G	COG5	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 908665	NM_006348.5(COG5):c.*865C>G	COG5	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 908666	NM_006348.5(COG5):c.*862C>G	COG5	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 358442	NM_006348.5(COG5):c.*828C>G	COG5	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GBenign
Select item 909522	NM_006348.5(COG5):c.*678T>C	COG5	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 909523	NM_006348.5(COG5):c.*634T>C	COG5	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 909524	NM_006348.5(COG5):c.*622C>T	COG5	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 909525	NM_006348.5(COG5):c.*617A>C	COG5	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 909526	NM_006348.5(COG5):c.*612G>A	COG5	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 358443	NM_006348.5(COG5):c.*612G>C	COG5	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 358444	NM_006348.5(COG5):c.*606A>G	COG5	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 909527	NM_006348.5(COG5):c.*589G>A	COG5	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 910438	NM_006348.5(COG5):c.*550A>G	COG5	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 358445	NM_006348.5(COG5):c.*544del	COG5	Deletion (3 prime UTR variant)	Congenital disorder of glycosylation	GLikely benign
Select item 910439	NM_006348.5(COG5):c.*498T>G	COG5	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 358446	NM_006348.5(COG5):c.*468C>A	COG5	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 910440	NM_006348.5(COG5):c.*437A>G	COG5	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 910441	NM_006348.5(COG5):c.*409T>C	COG5	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 910442	NM_006348.5(COG5):c.*306C>A	COG5	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 358447	NM_006348.5(COG5):c.*293T>C	COG5	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 358448	NM_006348.5(COG5):c.*247T>C	COG5	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 911672	NM_006348.5(COG5):c.*237T>C	COG5	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 911673	NM_006348.5(COG5):c.*220G>A	COG5	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 911674	NM_006348.5(COG5):c.*165C>T	COG5	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 911675	NM_006348.5(COG5):c.*162T>C	COG5	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 911676	NM_006348.5(COG5):c.*157T>C	COG5	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 911677	NM_006348.5(COG5):c.*89A>G	COG5	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 911678	NM_006348.5(COG5):c.*52G>A	COG5	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 358449	NM_006348.5(COG5):c.*8A>C	COG5	Single nucleotide variant (3 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 727157	NM_006348.5(COG5):c.2487G>A (p.Gln829=)	COG5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1200986	NM_006348.5(COG5):c.2485C>T (p.Gln829Ter)	COG5 (Q591* +7 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2096739	NM_006348.5(COG5):c.2483T>G (p.Leu828Arg)	COG5 (L807R +7 more)	Single nucleotide variant (missense variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2038960	NM_006348.5(COG5):c.2482C>T (p.Leu828Phe)	COG5 (L828F +7 more)	Single nucleotide variant (missense variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2155012	NM_006348.5(COG5):c.2481T>A (p.Ala827=)	COG5	Single nucleotide variant (synonymous variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 743010	NM_006348.5(COG5):c.2481T>C (p.Ala827=)	COG5	Single nucleotide variant (synonymous variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 1420892	NM_006348.5(COG5):c.2479G>C (p.Ala827Pro)	COG5 (A769P +7 more)	Single nucleotide variant (missense variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 1054770	NM_006348.5(COG5):c.2477C>T (p.Ser826Phe)	COG5 (S588F +7 more)	Single nucleotide variant (missense variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 1391809	NM_006348.5(COG5):c.2473_2474del (p.Met825fs)	COG5 (M587fs +7 more)	Deletion (frameshift variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 1506490	NM_006348.5(COG5):c.2473A>C (p.Met825Leu)	COG5 (M756L +7 more)	Single nucleotide variant (missense variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 1500262	NM_006348.5(COG5):c.2470G>T (p.Ala824Ser)	COG5 (A586S +7 more)	Single nucleotide variant (missense variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2065163	NM_006348.5(COG5):c.2458C>T (p.Leu820=)	COG5	Single nucleotide variant (synonymous variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 1370607	NM_006348.5(COG5):c.2456A>G (p.Gln819Arg)	COG5 (Q765R +7 more)	Single nucleotide variant (missense variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 358450	NM_006348.5(COG5):c.2456A>C (p.Gln819Pro)	COG5 (Q850P +8 more)	Single nucleotide variant (missense variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 1475533	NM_006348.5(COG5):c.2452G>C (p.Val818Leu)	COG5 (V628L +7 more)	Single nucleotide variant (missense variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 1425517	NM_006348.5(COG5):c.2451G>A (p.Met817Ile)	COG5 (M817I +7 more)	Single nucleotide variant (missense variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 1430591	NM_006348.5(COG5):c.2449A>G (p.Met817Val)	COG5 (M817V +7 more)	Single nucleotide variant (missense variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 736911	NM_006348.5(COG5):c.2433A>C (p.Ala811=)	COG5	Single nucleotide variant (synonymous variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 388637	NM_006348.5(COG5):c.2433A>T (p.Ala811=)	COG5	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 932927	NM_006348.5(COG5):c.2425G>T (p.Glu809Ter)	COG5 (E704* +7 more)	Single nucleotide variant (nonsense)	COG5-congenital disorder of glycosylation	GPathogenic
Select item 1975881	NM_006348.5(COG5):c.2415A>T (p.Arg805Ser)	COG5 (R751S +7 more)	Single nucleotide variant (missense variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2029729	NM_006348.5(COG5):c.2412T>C (p.Ser804=)	COG5	Single nucleotide variant (synonymous variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 817509	NM_006348.5(COG5):c.2400_2403dup (p.Val802fs)	COG5 (V564fs +7 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 358451	NM_006348.5(COG5):c.2401T>C (p.Ser801Pro)	COG5 (S832P +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1445092	NM_006348.5(COG5):c.2399A>G (p.Gln800Arg)	COG5 (Q695R +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1370464	NM_006348.5(COG5):c.2390C>G (p.Ala797Gly)	COG5 (A607G +7 more)	Single nucleotide variant (missense variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 1365743	NM_006348.5(COG5):c.2390C>T (p.Ala797Val)	COG5 (A607V +7 more)	Single nucleotide variant (missense variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2128119	NM_006348.5(COG5):c.2376-20_2376-17dup	COG5	Duplication (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 1253248	NM_006348.5(COG5):c.2376-206A>G	COG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224050	NM_006348.5(COG5):c.2375+216A>C	COG5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1237848	NM_006348.5(COG5):c.2375+33G>T	COG5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2807896	NM_006348.5(COG5):c.2375+15T>C	COG5	Single nucleotide variant (intron variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2752878	NM_006348.5(COG5):c.2375+12T>C	COG5	Single nucleotide variant (3 prime UTR variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2750344	NM_006348.5(COG5):c.2375+7C>T	COG5	Single nucleotide variant (3 prime UTR variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 1390123	NM_006348.5(COG5):c.2375G>A (p.Arg792Lys)	COG5 (R554K +6 more)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 1568773	NM_006348.5(COG5):c.2364C>T (p.Leu788=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2416670	NM_006348.5(COG5):c.2361G>A (p.Arg787=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 1424632	NM_006348.5(COG5):c.2360G>T (p.Arg787Met)	COG5 (R597M +6 more)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 1412092	NM_006348.5(COG5):c.2352A>T (p.Glu784Asp)	COG5 (E594D +6 more)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 577469	NM_006348.5(COG5):c.2347T>C (p.Ser783Pro)	COG5 (S814P +7 more)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 1159645	NM_006348.5(COG5):c.2346A>T (p.Pro782=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2156371	NM_006348.5(COG5):c.2335G>A (p.Asp779Asn)	COG5 (D541N +6 more)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 358452	NM_006348.5(COG5):c.2327A>G (p.Gln776Arg)	COG5 (Q807R +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1209351	NM_006348.5(COG5):c.2322C>A (p.Phe774Leu)	COG5 (F536L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1441247	NM_006348.5(COG5):c.2318G>A (p.Arg773His)	COG5 (R583H +6 more)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 908725	NM_006348.5(COG5):c.2317C>T (p.Arg773Cys)	COG5 (R752C +6 more)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2062974	NM_006348.5(COG5):c.2309C>T (p.Ser770Phe)	COG5 (S770F +6 more)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2419410	NM_006348.5(COG5):c.2304G>C (p.Glu768Asp)	COG5 (E530D +6 more)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance

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