29672[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 211

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 155108	GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3	ADAP1, AMZ1 +246 more	Copy number gain	See cases	GUncertain significance
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 154928	GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1	LOC126859917, LOC126859918 +245 more	Copy number loss	See cases	GPathogenic
Select item 160967	GRCh38/hg38 7p22.3(chr7:54185-1843584)x1	ADAP1, C7orf50 +140 more	Copy number loss	See cases	GPathogenic
Select item 147625	GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1	ADAP1, AMZ1 +246 more	Copy number loss	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 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 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 58496	GRCh38/hg38 7p22.3(chr7:54185-1441125)x1	ADAP1, C7orf50 +108 more	Copy number loss	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 32434	GRCh38/hg38 7p22.3(chr7:54185-1843584)x1	ADAP1, C7orf50 +140 more	Copy number loss	See cases	GPathogenic
Select item 149269	GRCh38/hg38 7p22.3(chr7:689554-2031521)x3	ADAP1, C7orf50 +117 more	Copy number gain	See cases	GUncertain significance
Select item 147514	GRCh38/hg38 7p22.3(chr7:791215-1993065)x3	ADAP1, C7orf50 +105 more	Copy number gain	See cases	GUncertain significance
Select item 148752	GRCh38/hg38 7p22.3(chr7:1085248-2530644)x4	C7orf50, CHST12 +116 more	Copy number gain	See cases	GUncertain significance
Select item 147494	GRCh38/hg38 7p22.3(chr7:1330987-2530644)x1	CHST12, EIF3B +99 more	Copy number loss	See cases	GUncertain significance
Select item 788416	NM_182924.4(MICALL2):c.2687C>T (p.Pro896Leu)	MICALL2 (P896L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3126272	NM_182924.4(MICALL2):c.2675A>G (p.Lys892Arg)	MICALL2 (K892R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741616	NM_182924.4(MICALL2):c.2667C>G (p.Arg889=)	MICALL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2398225	NM_182924.4(MICALL2):c.2665C>T (p.Arg889Cys)	MICALL2 (R889C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781891	NM_182924.4(MICALL2):c.2660A>C (p.Lys887Thr)	MICALL2 (K887T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2523348	NM_182924.4(MICALL2):c.2617C>T (p.Arg873Trp)	MICALL2 (R873W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332558	NM_182924.4(MICALL2):c.2610G>C (p.Gln870His)	MICALL2 (Q870H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731542	NM_182924.4(MICALL2):c.2592-8C>T	MICALL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2354476	NM_182924.4(MICALL2):c.2575G>A (p.Asp859Asn)	MICALL2 (D859N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783001	NM_182924.4(MICALL2):c.2572C>T (p.Leu858=)	MICALL2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2569601	NM_182924.4(MICALL2):c.2563G>T (p.Val855Leu)	MICALL2 (V855L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396895	NM_182924.4(MICALL2):c.2548G>A (p.Asp850Asn)	MICALL2 (D850N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741559	NM_182924.4(MICALL2):c.2547C>T (p.Asn849=)	MICALL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3126271	NM_182924.4(MICALL2):c.2542G>A (p.Val848Met)	MICALL2 (V848M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524758	NM_182924.4(MICALL2):c.2511G>C (p.Glu837Asp)	MICALL2 (E837D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481205	NM_182924.4(MICALL2):c.2464A>G (p.Met822Val)	MICALL2 (M822V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725317	NM_182924.4(MICALL2):c.2458C>T (p.Arg820Trp)	MICALL2 (R820W)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2258240	NM_182924.4(MICALL2):c.2455C>T (p.Arg819Cys)	MICALL2 (R819C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126270	NM_182924.4(MICALL2):c.2435T>G (p.Leu812Arg)	MICALL2 (L812R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126269	NM_182924.4(MICALL2):c.2434C>G (p.Leu812Val)	MICALL2 (L812V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365719	NM_182924.4(MICALL2):c.2417G>A (p.Arg806His)	MICALL2 (R806H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326100	NM_182924.4(MICALL2):c.2395A>G (p.Met799Val)	MICALL2 (M799V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245456	NM_182924.4(MICALL2):c.2368C>T (p.Leu790Phe)	MICALL2 (L790F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323826	NM_182924.4(MICALL2):c.2332A>G (p.Met778Val)	MICALL2 (M778V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126268	NM_182924.4(MICALL2):c.2317G>A (p.Ala773Thr)	MICALL2 (A773T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657179	NM_182924.4(MICALL2):c.2316C>T (p.Asp772=)	MICALL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3126267	NM_182924.4(MICALL2):c.2302G>T (p.Ala768Ser)	MICALL2 (A768S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614626	NM_182924.4(MICALL2):c.2299G>T (p.Ala767Ser)	MICALL2 (A767S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782257	NM_182924.4(MICALL2):c.2270G>A (p.Arg757His)	MICALL2 (R757H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2599945	NM_182924.4(MICALL2):c.2266C>T (p.Leu756Phe)	MICALL2 (L756F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294795	NM_182924.4(MICALL2):c.2260C>A (p.Leu754Met)	MICALL2 (L754M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716873	NM_182924.4(MICALL2):c.2257G>T (p.Ala753Ser)	MICALL2 (A753S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2210241	NM_182924.4(MICALL2):c.2248C>T (p.Arg750Trp)	MICALL2 (R750W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732370	NM_182924.4(MICALL2):c.2150C>T (p.Pro717Leu)	MICALL2 (P717L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2401171	NM_182924.4(MICALL2):c.2144A>G (p.Asn715Ser)	MICALL2 (N715S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770180	NM_182924.4(MICALL2):c.2143A>C (p.Asn715His)	MICALL2 (N715H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2332557	NM_182924.4(MICALL2):c.2138C>T (p.Pro713Leu)	MICALL2 (P713L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377306	NM_182924.4(MICALL2):c.2135C>T (p.Ser712Phe)	MICALL2 (S712F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334607	NM_182924.4(MICALL2):c.2128C>G (p.Pro710Ala)	MICALL2 (P710A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217485	NM_182924.4(MICALL2):c.2117A>G (p.Lys706Arg)	MICALL2 (K706R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126266	NM_182924.4(MICALL2):c.2113G>A (p.Gly705Ser)	MICALL2 (G705S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411411	NM_182924.4(MICALL2):c.2042G>A (p.Arg681Gln)	MICALL2 (R681Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3126265	NM_182924.4(MICALL2):c.2038C>T (p.Leu680Phe)	MICALL2 (L680F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227498	NM_182924.4(MICALL2):c.2033A>G (p.Asn678Ser)	MICALL2 (N678S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126264	NM_182924.4(MICALL2):c.2023G>A (p.Val675Ile)	MICALL2 (V675I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713469	NM_182924.4(MICALL2):c.2022C>T (p.Asp674=)	MICALL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2526976	NM_182924.4(MICALL2):c.2012C>G (p.Ala671Gly)	MICALL2 (A671G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722062	NM_182924.4(MICALL2):c.1999C>T (p.Leu667=)	MICALL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2601685	NM_182924.4(MICALL2):c.1990C>T (p.Arg664Cys)	MICALL2 (R664C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769703	NM_182924.4(MICALL2):c.1988G>A (p.Arg663His)	MICALL2 (R663H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2595457	NM_182924.4(MICALL2):c.1964C>T (p.Pro655Leu)	MICALL2 (P655L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242832	NM_182924.4(MICALL2):c.1951G>A (p.Gly651Arg)	MICALL2 (G651R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570379	NM_182924.4(MICALL2):c.1943C>T (p.Ala648Val)	MICALL2 (A648V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126263	NM_182924.4(MICALL2):c.1936C>T (p.Arg646Cys)	MICALL2 (R646C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773883	NM_182924.4(MICALL2):c.1914C>T (p.Pro638=)	MICALL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2409226	NM_182924.4(MICALL2):c.1913C>T (p.Pro638Leu)	MICALL2 (P638L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126262	NM_182924.4(MICALL2):c.1858G>A (p.Ala620Thr)	MICALL2 (A620T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591446	NM_182924.4(MICALL2):c.1850C>T (p.Ala617Val)	MICALL2 (A617V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368733	NM_182924.4(MICALL2):c.1829G>A (p.Arg610Gln)	MICALL2 (R610Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569799	NM_182924.4(MICALL2):c.1788G>T (p.Arg596Ser)	MICALL2 (R596S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294790	NM_182924.4(MICALL2):c.1741G>A (p.Glu581Lys)	MICALL2 (E581K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210517	NM_182924.4(MICALL2):c.1715T>G (p.Met572Arg)	MICALL2 (M572R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2378185	NM_182924.4(MICALL2):c.1714A>G (p.Met572Val)	MICALL2 (M572V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294785	NM_182924.4(MICALL2):c.1710G>C (p.Gln570His)	MICALL2 (Q570H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214714	NM_182924.4(MICALL2):c.1709A>G (p.Gln570Arg)	MICALL2 (Q570R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294791	NM_182924.4(MICALL2):c.1704A>C (p.Leu568Phe)	MICALL2 (L568F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520371	NM_182924.4(MICALL2):c.1686G>T (p.Lys562Asn)	MICALL2 (K562N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363972	NM_182924.4(MICALL2):c.1661C>T (p.Pro554Leu)	MICALL2 (P554L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2388272	NM_182924.4(MICALL2):c.1636G>A (p.Gly546Ser)	MICALL2 (G546S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2412340	NM_182924.4(MICALL2):c.1606A>G (p.Arg536Gly)	MICALL2 (R536G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708926	NM_182924.4(MICALL2):c.1605C>A (p.Gly535=)	MICALL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2370450	NM_182924.4(MICALL2):c.1588G>A (p.Ala530Thr)	MICALL2 (A530T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126259	NM_182924.4(MICALL2):c.1562G>A (p.Ser521Asn)	MICALL2 (S521N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207995	NM_182924.4(MICALL2):c.1559T>C (p.Leu520Pro)	MICALL2 (L520P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768124	NM_182924.4(MICALL2):c.1556C>T (p.Pro519Leu)	MICALL2 (P519L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2410192	NM_182924.4(MICALL2):c.1555C>A (p.Pro519Thr)	MICALL2 (P519T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126258	NM_182924.4(MICALL2):c.1526G>T (p.Gly509Val)	MICALL2 (G509V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460949	NM_182924.4(MICALL2):c.1517G>A (p.Arg506Gln)	MICALL2 (R506Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2410511	NM_182924.4(MICALL2):c.1483C>A (p.Pro495Thr)	MICALL2 (P495T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126257	NM_182924.4(MICALL2):c.1463C>T (p.Thr488Ile)	MICALL2 (T488I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 3