ClinVar for Gene (Select 84073) - ClinVar

Links from Gene

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3297290	NM_032133.6(MYCBPAP):c.2392G>T (p.Val798Leu)	MYCBPAP (V798L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297289	NM_032133.6(MYCBPAP):c.2317G>A (p.Asp773Asn)	MYCBPAP (D788N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297288	NM_032133.6(MYCBPAP):c.1702G>C (p.Val568Leu)	MYCBPAP (V583L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297287	NM_032133.6(MYCBPAP):c.2468A>G (p.Glu823Gly)	MYCBPAP (E823G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297286	NM_032133.6(MYCBPAP):c.461A>G (p.Asn154Ser)	MYCBPAP (N154S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297283	NM_032133.6(MYCBPAP):c.86G>A (p.Arg29Gln)	MYCBPAP (R29Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3155242	NM_032133.6(MYCBPAP):c.867G>A (p.Met289Ile)	MYCBPAP (M304I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155223	NM_032133.6(MYCBPAP):c.716A>G (p.Gln239Arg)	MYCBPAP (Q239R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155214	NM_032133.6(MYCBPAP):c.626G>A (p.Arg209Gln)	MYCBPAP (R224Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155203	NM_032133.6(MYCBPAP):c.-65C>T	LOC130061168, MYCBPAP	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3155197	NM_032133.6(MYCBPAP):c.319C>T (p.Arg107Cys)	MYCBPAP (R107C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155186	NM_032133.6(MYCBPAP):c.241C>T (p.Arg81Cys)	MYCBPAP (R81C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155182	NM_032133.6(MYCBPAP):c.230A>G (p.Lys77Arg)	MYCBPAP (K77R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155180	NM_032133.6(MYCBPAP):c.176T>C (p.Leu59Ser)	MYCBPAP (L59S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155169	NM_032133.6(MYCBPAP):c.2678T>C (p.Ile893Thr)	MYCBPAP (I893T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155146	NM_032133.6(MYCBPAP):c.2419C>A (p.Pro807Thr)	MYCBPAP (P807T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155145	NM_032133.6(MYCBPAP):c.2285A>C (p.Gln762Pro)	MYCBPAP (Q762P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155121	NM_032133.6(MYCBPAP):c.1891A>G (p.Ser631Gly)	MYCBPAP (S646G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155116	NM_032133.6(MYCBPAP):c.1882G>A (p.Glu628Lys)	MYCBPAP (E643K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155104	NM_032133.6(MYCBPAP):c.1718G>A (p.Arg573His)	MYCBPAP (R573H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155100	NM_032133.6(MYCBPAP):c.1693C>G (p.Leu565Val)	MYCBPAP (L565V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155095	NM_032133.6(MYCBPAP):c.1615G>A (p.Asp539Asn)	MYCBPAP (D554N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155089	NM_032133.6(MYCBPAP):c.1603G>T (p.Asp535Tyr)	MYCBPAP (D550Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155081	NM_032133.6(MYCBPAP):c.1578T>G (p.Asn526Lys)	MYCBPAP (N541K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155067	NM_032133.6(MYCBPAP):c.1276G>C (p.Ala426Pro)	MYCBPAP (A426P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155051	NM_032133.6(MYCBPAP):c.1081G>A (p.Val361Ile)	MYCBPAP (V376I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155043	NM_032133.6(MYCBPAP):c.1037T>C (p.Ile346Thr)	MYCBPAP (I346T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155034	NM_032133.6(MYCBPAP):c.-18A>G	LOC130061168, MYCBPAP	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2692407	Single allele	ABI3, CACNA1G +45 more	Deletion	Tricho-dento-osseous syndrome +1 more	GPathogenic
Select item 2614326	NM_032133.6(MYCBPAP):c.821T>C (p.Met274Thr)	MYCBPAP (M274T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613480	NM_032133.6(MYCBPAP):c.2021G>C (p.Arg674Thr)	MYCBPAP (R674T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611387	NM_032133.6(MYCBPAP):c.2682C>A (p.Asp894Glu)	MYCBPAP (D910E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604917	NM_032133.6(MYCBPAP):c.1237G>A (p.Gly413Ser)	MYCBPAP (G428S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604213	NM_032133.6(MYCBPAP):c.538A>G (p.Lys180Glu)	MYCBPAP (K180E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593732	NM_032133.6(MYCBPAP):c.2674C>T (p.Pro892Ser)	MYCBPAP (P908S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567426	NM_032133.6(MYCBPAP):c.137C>T (p.Pro46Leu)	MYCBPAP (P46L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561432	NM_032133.6(MYCBPAP):c.857G>A (p.Arg286His)	MYCBPAP (R286H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558685	NM_032133.6(MYCBPAP):c.1008G>C (p.Met336Ile)	MYCBPAP (M336I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552404	NM_032133.6(MYCBPAP):c.1942T>G (p.Phe648Val)	MYCBPAP (F648V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548787	NM_032133.6(MYCBPAP):c.1043G>T (p.Gly348Val)	MYCBPAP (G348V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539335	NM_032133.6(MYCBPAP):c.2174T>C (p.Val725Ala)	MYCBPAP (V740A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513246	NM_032133.6(MYCBPAP):c.2689G>A (p.Val897Ile)	MYCBPAP (V913I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476281	NM_032133.6(MYCBPAP):c.-93C>T	LOC130061168, MYCBPAP	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2470334	NM_032133.6(MYCBPAP):c.2545G>T (p.Gly849Trp)	MYCBPAP (G849W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465576	NM_032133.6(MYCBPAP):c.946C>T (p.Arg316Cys)	MYCBPAP (R331C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403641	NM_032133.6(MYCBPAP):c.661A>G (p.Lys221Glu)	MYCBPAP (K221E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402365	NM_032133.6(MYCBPAP):c.1712C>T (p.Pro571Leu)	MYCBPAP (P571L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402112	NM_032133.6(MYCBPAP):c.2657T>C (p.Ile886Thr)	MYCBPAP (I886T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2396509	NM_032133.6(MYCBPAP):c.2634G>C (p.Leu878Phe)	MYCBPAP (L878F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391214	NM_032133.6(MYCBPAP):c.370G>A (p.Gly124Ser)	MYCBPAP (G139S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387536	NM_032133.6(MYCBPAP):c.2221C>G (p.Leu741Val)	MYCBPAP (L741V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381459	NM_032133.6(MYCBPAP):c.1549C>G (p.Leu517Val)	MYCBPAP (L517V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381336	NM_032133.6(MYCBPAP):c.2422C>T (p.Pro808Ser)	MYCBPAP (P823S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368251	NM_032133.6(MYCBPAP):c.947G>A (p.Arg316His)	MYCBPAP (R316H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366127	NM_032133.6(MYCBPAP):c.2233G>A (p.Ala745Thr)	MYCBPAP (A745T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360038	NM_032133.6(MYCBPAP):c.1750G>A (p.Glu584Lys)	MYCBPAP (E599K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2358698	NM_032133.6(MYCBPAP):c.860G>A (p.Gly287Asp)	MYCBPAP (G287D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352370	NM_032133.6(MYCBPAP):c.758G>A (p.Arg253His)	MYCBPAP (R253H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2347693	NM_032133.6(MYCBPAP):c.1097A>G (p.Tyr366Cys)	MYCBPAP (Y381C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315171	NM_032133.6(MYCBPAP):c.1852A>C (p.Lys618Gln)	MYCBPAP (K633Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313388	NM_032133.6(MYCBPAP):c.2114A>G (p.Glu705Gly)	MYCBPAP (E705G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304922	NM_032133.6(MYCBPAP):c.1603G>A (p.Asp535Asn)	MYCBPAP (D535N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295630	NM_032133.6(MYCBPAP):c.694G>A (p.Gly232Arg)	MYCBPAP (G232R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291070	NM_032133.6(MYCBPAP):c.1186A>G (p.Ile396Val)	MYCBPAP (I396V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2287985	NM_032133.6(MYCBPAP):c.587A>G (p.His196Arg)	MYCBPAP (H211R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283293	NM_032133.6(MYCBPAP):c.1372C>T (p.Arg458Trp)	MYCBPAP (R473W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278570	NM_032133.6(MYCBPAP):c.1397A>G (p.Gln466Arg)	MYCBPAP (Q466R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277087	NM_032133.6(MYCBPAP):c.1100C>T (p.Thr367Ile)	MYCBPAP (T382I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259802	NM_032133.6(MYCBPAP):c.2683C>A (p.Pro895Thr)	MYCBPAP (P911T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259600	NM_032133.6(MYCBPAP):c.2800G>A (p.Glu934Lys)	MYCBPAP (E950K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237642	NM_032133.6(MYCBPAP):c.865A>C (p.Met289Leu)	MYCBPAP (M289L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2229389	NM_032133.6(MYCBPAP):c.8C>T (p.Ser3Phe)	MYCBPAP (S3F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226929	NM_032133.6(MYCBPAP):c.820A>G (p.Met274Val)	MYCBPAP (M289V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214511	NM_032133.6(MYCBPAP):c.755G>A (p.Arg252Gln)	MYCBPAP (R252Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2213334	NM_032133.6(MYCBPAP):c.1940G>A (p.Arg647His)	MYCBPAP (R647H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2208506	NM_032133.6(MYCBPAP):c.2051G>A (p.Ser684Asn)	MYCBPAP (S699N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 444852	GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	HOXB3, HOXB4 +67 more	Copy number loss	not provided	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 86