79651[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 374

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 369229	NM_024599.5(RHBDF2):c.*742A>C	RHBDF2	Single nucleotide variant	Palmoplantar keratoderma-esophageal carcinoma syndrome	GBenign
Select item 325397	NM_001005498.4(RHBDF2):c.*726T>G	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 325398	NM_001005498.4(RHBDF2):c.*711A>G	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 888632	NM_001005498.4(RHBDF2):c.*703G>A	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GBenign
Select item 325399	NM_001005498.4(RHBDF2):c.*702C>G	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 325400	NM_001005498.4(RHBDF2):c.*698C>G	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome +1 more	GBenign
Select item 325401	NM_001005498.4(RHBDF2):c.*642G>A	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 325402	NM_001005498.4(RHBDF2):c.*619A>G	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 888633	NM_001005498.4(RHBDF2):c.*606C>T	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 888634	NM_001005498.4(RHBDF2):c.*590C>T	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 325403	NM_001005498.4(RHBDF2):c.*580C>T	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 325406	NM_001005498.4(RHBDF2):c.*551G>A	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 325405	NM_001005498.4(RHBDF2):c.*551G>C	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome +1 more	GBenign
Select item 325404	NM_001005498.4(RHBDF2):c.*551G>T	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GBenign
Select item 890335	NM_001005498.4(RHBDF2):c.*537G>A	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 325407	NM_001005498.4(RHBDF2):c.*536G>A	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 325408	NM_001005498.4(RHBDF2):c.*511G>A	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 890336	NM_001005498.4(RHBDF2):c.*475T>G	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 325409	NM_001005498.4(RHBDF2):c.*449C>T	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 890901	NM_001005498.4(RHBDF2):c.*405T>C	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 325410	NM_001005498.4(RHBDF2):c.*366C>G	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 890902	NM_001005498.4(RHBDF2):c.*342T>C	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 325411	NM_001005498.4(RHBDF2):c.*331dup	RHBDF2	Duplication (3 prime UTR variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GBenign
Select item 325412	NM_001005498.4(RHBDF2):c.*310G>A	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 325413	NM_001005498.4(RHBDF2):c.*287C>T	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 890903	NM_001005498.4(RHBDF2):c.*205C>T	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 325414	NM_001005498.4(RHBDF2):c.*198G>A	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GBenign
Select item 325415	NM_001005498.4(RHBDF2):c.*182G>A	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 325416	NM_001005498.4(RHBDF2):c.*181C>T	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GBenign
Select item 325417	NM_001005498.4(RHBDF2):c.*160G>A	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 325418	NM_001005498.4(RHBDF2):c.*116G>A	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GBenign
Select item 892134	NM_001005498.4(RHBDF2):c.*53G>T	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 325419	NM_001005498.4(RHBDF2):c.*51G>C	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 3041568	NM_001005498.4(RHBDF2):c.*3G>A	RHBDF2	Single nucleotide variant (3 prime UTR variant +1 more)	RHBDF2-related disorder	GLikely benign
Select item 3240332	NM_001005498.4(RHBDF2):c.2480A>C (p.His827Pro)	RHBDF2 (H827P +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 2678362	NM_001005498.4(RHBDF2):c.2452G>A (p.Glu818Lys)	RHBDF2 (E818K +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 325420	NM_001005498.4(RHBDF2):c.2451C>T (p.Cys817=)	RHBDF2	Single nucleotide variant (synonymous variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 2678387	NM_001005498.4(RHBDF2):c.2443C>T (p.Arg815Cys)	RHBDF2 (R815C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2789305	NM_001005498.4(RHBDF2):c.2400_2410del (p.Trp801fs)	RHBDF2 (W801fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2613766	NM_001005498.4(RHBDF2):c.2398A>G (p.Asn800Asp)	RHBDF2 (N800D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2028356	NM_001005498.4(RHBDF2):c.2389T>C (p.Tyr797His)	RHBDF2 (Y826H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2889074	NM_001005498.4(RHBDF2):c.2386A>G (p.Ile796Val)	RHBDF2 (I796V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2678361	NM_001005498.4(RHBDF2):c.2371G>A (p.Val791Met)	RHBDF2 (V791M +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 325421	NM_001005498.4(RHBDF2):c.2365G>A (p.Ala789Thr)	RHBDF2 (A818T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2678325	NM_001005498.4(RHBDF2):c.2353G>A (p.Gly785Ser)	RHBDF2 (G785S +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 2904134	NM_001005498.4(RHBDF2):c.2352C>T (p.Ala784=)	RHBDF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3018565	NM_001005498.4(RHBDF2):c.2346C>T (p.Ala782=)	RHBDF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3314180	NM_001005498.4(RHBDF2):c.2333T>C (p.Val778Ala)	RHBDF2 (V778A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3240314	NM_001005498.4(RHBDF2):c.2329C>G (p.Leu777Val)	RHBDF2 (L777V +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 3240334	NM_001005498.4(RHBDF2):c.2318G>A (p.Arg773Gln)	RHBDF2 (R773Q +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 2678323	NM_001005498.4(RHBDF2):c.2284A>G (p.Ile762Val)	RHBDF2 (I762V +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 325422	NM_001005498.4(RHBDF2):c.2265C>T (p.Ala755=)	RHBDF2	Single nucleotide variant (synonymous variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome +1 more	GBenign/Likely benign
Select item 1617785	NM_001005498.4(RHBDF2):c.2247C>T (p.Leu749=)	RHBDF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2723674	NM_001005498.4(RHBDF2):c.2232C>T (p.His744=)	RHBDF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2903774	NM_001005498.4(RHBDF2):c.2217C>T (p.Ile739=)	RHBDF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1598246	NM_001005498.4(RHBDF2):c.2194A>T (p.Ile732Phe)	RHBDF2 (I732F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2955197	NM_001005498.4(RHBDF2):c.2190G>A (p.Leu730=)	RHBDF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2678328	NM_001005498.4(RHBDF2):c.2174C>T (p.Ala725Val)	RHBDF2 (A725V +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome +1 more	GUncertain significance
Select item 3240323	NM_001005498.4(RHBDF2):c.2171C>T (p.Ser724Leu)	RHBDF2 (S724L +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 997609	NM_001005498.4(RHBDF2):c.2166C>A (p.Asn722Lys)	RHBDF2 (N722K +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome +1 more	GUncertain significance
Select item 325423	NM_001005498.4(RHBDF2):c.2161C>T (p.Leu721Phe)	RHBDF2 (L750F +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 2983880	NM_001005498.4(RHBDF2):c.2133G>A (p.Pro711=)	RHBDF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3153993	NM_001005498.4(RHBDF2):c.2132C>T (p.Pro711Leu)	RHBDF2 (P711L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 888693	NM_001005498.4(RHBDF2):c.2088C>T (p.Phe696=)	RHBDF2	Single nucleotide variant (synonymous variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 325424	NM_001005498.4(RHBDF2):c.2073G>A (p.Pro691=)	RHBDF2	Single nucleotide variant (synonymous variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 2678363	NM_001005498.4(RHBDF2):c.2072C>T (p.Pro691Leu)	RHBDF2 (P691L +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 2678359	NM_001005498.4(RHBDF2):c.2064+231A>G	RHBDF2	Single nucleotide variant (intron variant)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 1273628	NM_001005498.4(RHBDF2):c.2064+216T>C	RHBDF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 888694	NM_001005498.4(RHBDF2):c.2064+7A>G	RHBDF2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3314178	NM_001005498.4(RHBDF2):c.2057G>A (p.Arg686Gln)	RHBDF2 (R686Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2678340	NM_001005498.4(RHBDF2):c.2041A>G (p.Ile681Val)	RHBDF2 (I681V +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 797087	NM_001005498.4(RHBDF2):c.2034C>T (p.Ala678=)	RHBDF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 997655	NM_001005498.4(RHBDF2):c.2032G>A (p.Ala678Thr)	RHBDF2 (A678T +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 997645	NM_001005498.4(RHBDF2):c.1993G>A (p.Ala665Thr)	RHBDF2 (A665T +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 3240320	NM_001005498.4(RHBDF2):c.1988G>A (p.Arg663His)	RHBDF2 (R663H +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 2485450	NM_001005498.4(RHBDF2):c.1987C>T (p.Arg663Cys)	RHBDF2 (R663C +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome +1 more	GUncertain significance
Select item 3240324	NM_001005498.4(RHBDF2):c.1969A>G (p.Lys657Glu)	RHBDF2 (K657E +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 745825	NM_001005498.4(RHBDF2):c.1962C>T (p.Asp654=)	RHBDF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 325425	NM_001005498.4(RHBDF2):c.1960G>T (p.Asp654Tyr)	RHBDF2 (D683Y +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 2678379	NM_001005498.4(RHBDF2):c.1924C>T (p.Leu642Phe)	RHBDF2 (L642F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 2678343	NM_001005498.4(RHBDF2):c.1918C>T (p.His640Tyr)	RHBDF2 (H640Y +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 888695	NM_001005498.4(RHBDF2):c.1912G>A (p.Val638Met)	RHBDF2 (V638M +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GConflicting classifications of pathogenicity
Select item 3314179	NM_001005498.4(RHBDF2):c.1911C>T (p.Gly637=)	RHBDF2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1936648	NM_001005498.4(RHBDF2):c.1911-17G>A	RHBDF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 888696	NM_001005498.4(RHBDF2):c.1908T>C (p.Ala636=)	RHBDF2	Single nucleotide variant (synonymous variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GBenign
Select item 2754268	NM_001005498.4(RHBDF2):c.1851C>T (p.Leu617=)	RHBDF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3240346	NM_001005498.4(RHBDF2):c.1844C>G (p.Pro615Arg)	RHBDF2 (P615R +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 325426	NM_001005498.4(RHBDF2):c.1837C>T (p.Leu613=)	RHBDF2	Single nucleotide variant (synonymous variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome +1 more	GBenign/Likely benign
Select item 3240330	NM_001005498.4(RHBDF2):c.1818C>G (p.Cys606Trp)	RHBDF2 (C606W +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 325427	NM_001005498.4(RHBDF2):c.1812G>A (p.Val604=)	RHBDF2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2678390	NM_001005498.4(RHBDF2):c.1810-56G>A	RHBDF2	Single nucleotide variant (intron variant)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 325428	NM_001005498.4(RHBDF2):c.1809+11G>T	RHBDF2	Single nucleotide variant (intron variant)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 325429	NM_001005498.4(RHBDF2):c.1809+7C>T	RHBDF2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3363778	NM_001005498.4(RHBDF2):c.1804T>A (p.Ser602Thr)	RHBDF2 (S602T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3240339	NM_001005498.4(RHBDF2):c.1796C>T (p.Thr599Ile)	RHBDF2 (T599I +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 2678351	NM_001005498.4(RHBDF2):c.1750C>T (p.Arg584Trp)	RHBDF2 (R584W +1 more)	Single nucleotide variant (missense variant +1 more)	Palmoplantar keratoderma-esophageal carcinoma syndrome	GUncertain significance
Select item 2484292	NM_001005498.4(RHBDF2):c.1737T>G (p.Cys579Trp)	RHBDF2 (C608W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2912877	NM_001005498.4(RHBDF2):c.1734-6C>A	RHBDF2	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 4