Related gene-specific medical variations for Gene (Select 55898) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359663	NM_018671.5(UNC45A):c.2393G>A (p.Cys798Tyr)	UNC45A (C653Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3331031	NM_018671.5(UNC45A):c.2545C>G (p.Arg849Gly)	RCCD1-AS1, UNC45A (R704G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283721	NM_001286451.2(HDDC3):c.290A>G (p.Lys97Arg)	HDDC3, LOC130057951 +1 more (K97R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186548	NM_018671.5(UNC45A):c.2581A>G (p.Thr861Ala)	RCCD1-AS1, UNC45A (T846A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104676	NM_001286451.2(HDDC3):c.394C>A (p.Arg132Ser)	HDDC3, LOC130057951 +1 more (R132S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3104675	NM_001286451.2(HDDC3):c.392A>G (p.Asn131Ser)	HDDC3, LOC130057951 +1 more (N131S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3064998	NM_018671.5(UNC45A):c.1500+1G>A	UNC45A	Single nucleotide variant (splice donor variant)	Osteootohepatoenteric syndrome	GUncertain significance
Select item 3062256	NM_018671.5(UNC45A):c.213+1G>C	UNC45A	Single nucleotide variant (splice donor variant)	Osteootohepatoenteric syndrome	GLikely pathogenic
Select item 3061788	NM_018671.5(UNC45A):c.2512G>C (p.Ala838Pro)	RCCD1-AS1, UNC45A (A693P +1 more)	Single nucleotide variant (missense variant)	Osteootohepatoenteric syndrome	GPathogenic
Select item 3024390	NM_018671.5(UNC45A):c.-98G>T	LOC130057954, UNC45A	Single nucleotide variant (genic upstream transcript variant +2 more)	Cholestasis-edema syndrome, Norwegian type	GPathogenic
Select item 3012400	NM_018671.5(UNC45A):c.2304-8C>T	RCCD1-AS1, UNC45A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2996053	NM_018671.5(UNC45A):c.2422-18C>T	RCCD1-AS1, UNC45A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2974066	NM_018671.5(UNC45A):c.2563C>T (p.Arg855Cys)	RCCD1-AS1, UNC45A (R855C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892625	NM_018671.5(UNC45A):c.2679G>A (p.Ser893=)	RCCD1-AS1, UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865070	NM_018671.5(UNC45A):c.2328T>A (p.Ala776=)	RCCD1-AS1, UNC45A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2829242	NM_018671.5(UNC45A):c.2422-7G>C	RCCD1-AS1, UNC45A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2800666	NM_018671.5(UNC45A):c.2376C>T (p.Arg792=)	RCCD1-AS1, UNC45A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2645716	NM_001286451.2(HDDC3):c.414G>A (p.Trp138Ter)	HDDC3, UNC45A (W138*)	Single nucleotide variant (nonsense +3 more)	not provided	GLikely benign
Select item 2627373	NM_018671.5(UNC45A):c.2779T>G (p.Cys927Gly)	RCCD1-AS1, UNC45A (C782G +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2627372	NM_018671.5(UNC45A):c.2678C>T (p.Ser893Leu)	RCCD1-AS1, UNC45A (S748L +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2536535	NM_018671.5(UNC45A):c.2660T>A (p.Leu887Gln)	RCCD1-AS1, UNC45A (L872Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483679	NM_001286451.2(HDDC3):c.332G>A (p.Ser111Asn)	HDDC3, LOC130057951 +1 more (S111N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2477093	NM_018671.5(UNC45A):c.2507G>A (p.Arg836Gln)	RCCD1-AS1, UNC45A (R821Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469197	NM_018671.5(UNC45A):c.2395A>G (p.Met799Val)	RCCD1-AS1, UNC45A (M654V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2441784	NM_018671.5(UNC45A):c.51+2T>C	UNC45A, LOC130057954	Single nucleotide variant (intron variant +1 more)	Osteootohepatoenteric syndrome	GLikely pathogenic
Select item 2418330	NM_018671.5(UNC45A):c.31C>T (p.Pro11Ser)	LOC130057954, UNC45A (P11S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2413252	NM_018671.5(UNC45A):c.2760C>T (p.Val920=)	RCCD1-AS1, UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2367853	NM_018671.5(UNC45A):c.2546G>A (p.Arg849Gln)	RCCD1-AS1, UNC45A (R704Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332029	NM_018671.5(UNC45A):c.2749C>G (p.His917Asp)	RCCD1-AS1, UNC45A (H902D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311747	NM_018671.5(UNC45A):c.4A>G (p.Thr2Ala)	LOC130057954, UNC45A (T2A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227164	NM_018671.5(UNC45A):c.2329G>A (p.Val777Met)	RCCD1-AS1, UNC45A (V777M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224056	NM_018671.5(UNC45A):c.35G>C (p.Arg12Pro)	LOC130057954, UNC45A (R12P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2188041	NM_018671.5(UNC45A):c.51+5G>A	LOC130057954, UNC45A	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2182708	NM_018671.5(UNC45A):c.2796G>A (p.Val932=)	RCCD1-AS1, UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179042	NM_018671.5(UNC45A):c.2645dup (p.Ala883fs)	RCCD1-AS1, UNC45A (A883fs +2 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2170705	NM_018671.5(UNC45A):c.2374C>T (p.Arg792Cys)	RCCD1-AS1, UNC45A (R792C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2102413	NM_018671.5(UNC45A):c.2654T>A (p.Val885Glu)	RCCD1-AS1, UNC45A (V870E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088403	NM_018671.5(UNC45A):c.2578A>T (p.Thr860Ser)	RCCD1-AS1, UNC45A (T860S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2078984	NM_018671.5(UNC45A):c.32C>A (p.Pro11His)	LOC130057954, UNC45A (P11H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2054598	NM_018671.5(UNC45A):c.2304-6C>G	RCCD1-AS1, UNC45A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2050657	NM_018671.5(UNC45A):c.2633T>C (p.Leu878Pro)	RCCD1-AS1, UNC45A (L863P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2046956	NM_018671.5(UNC45A):c.36G>A (p.Arg12=)	LOC130057954, UNC45A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2020400	NM_018671.5(UNC45A):c.2424G>C (p.Val808=)	RCCD1-AS1, UNC45A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2019188	NM_018671.5(UNC45A):c.51+13C>T	LOC130057954, UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2010691	NM_018671.5(UNC45A):c.2730A>T (p.Ser910=)	RCCD1-AS1, UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1995801	NM_018671.5(UNC45A):c.2499G>A (p.Leu833=)	RCCD1-AS1, UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1995620	NM_018671.5(UNC45A):c.2553G>T (p.Thr851=)	RCCD1-AS1, UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1958785	NM_018671.5(UNC45A):c.2304-18C>T	RCCD1-AS1, UNC45A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1955253	NM_018671.5(UNC45A):c.14dup (p.Pro6fs)	LOC130057954, UNC45A (P6fs)	Duplication (frameshift variant +2 more)	not provided	GUncertain significance
Select item 1954798	NM_018671.5(UNC45A):c.2759T>A (p.Val920Asp)	RCCD1-AS1, UNC45A (V905D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944228	NM_018671.5(UNC45A):c.2342A>T (p.Glu781Val)	RCCD1-AS1, UNC45A (E766V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1935391	NM_018671.5(UNC45A):c.2544G>A (p.Met848Ile)	RCCD1-AS1, UNC45A (M833I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933212	NM_018671.5(UNC45A):c.48C>T (p.Pro16=)	LOC130057954, UNC45A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1930066	NM_018671.5(UNC45A):c.2517C>T (p.Ala839=)	RCCD1-AS1, UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1913074	NM_018671.5(UNC45A):c.44C>G (p.Thr15Ser)	LOC130057954, UNC45A (T15S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1906575	NM_018671.5(UNC45A):c.51+8C>A	LOC130057954, UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1905136	NM_018671.5(UNC45A):c.2578-11T>C	RCCD1-AS1, UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1903499	NM_018671.5(UNC45A):c.2745T>A (p.Gly915=)	RCCD1-AS1, UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1903298	NM_018671.5(UNC45A):c.2658G>A (p.Val886=)	RCCD1-AS1, UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1896513	NM_018671.5(UNC45A):c.30G>T (p.Glu10Asp)	LOC130057954, UNC45A (E10D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1657644	NM_018671.5(UNC45A):c.2634G>A (p.Leu878=)	RCCD1-AS1, UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1654279	NM_018671.5(UNC45A):c.2721G>A (p.Glu907=)	RCCD1-AS1, UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1653814	NM_018671.5(UNC45A):c.2421+19G>C	RCCD1-AS1, UNC45A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1653056	NM_018671.5(UNC45A):c.2724C>T (p.Ile908=)	RCCD1-AS1, UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1646796	NM_018671.5(UNC45A):c.2577+20G>T	RCCD1-AS1, UNC45A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1644687	NM_018671.5(UNC45A):c.33C>A (p.Pro11=)	LOC130057954, UNC45A	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 1642364	NM_018671.5(UNC45A):c.2487G>A (p.Glu829=)	RCCD1-AS1, UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1633551	NM_018671.5(UNC45A):c.2679G>C (p.Ser893=)	RCCD1-AS1, UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1632990	NM_018671.5(UNC45A):c.2422-13C>T	RCCD1-AS1, UNC45A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1624528	NM_018671.5(UNC45A):c.2421+13C>G	RCCD1-AS1, UNC45A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1614709	NM_018671.5(UNC45A):c.2559C>T (p.Cys853=)	RCCD1-AS1, UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1606176	NM_018671.5(UNC45A):c.2523C>T (p.Gly841=)	RCCD1-AS1, UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1589662	NM_018671.5(UNC45A):c.2706G>A (p.Glu902=)	RCCD1-AS1, UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1579767	NM_018671.5(UNC45A):c.30G>A (p.Glu10=)	LOC130057954, UNC45A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1572532	NM_018671.5(UNC45A):c.2682G>A (p.Arg894=)	RCCD1-AS1, UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1563380	NM_018671.5(UNC45A):c.2436C>T (p.Phe812=)	RCCD1-AS1, UNC45A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1539085	NM_018671.5(UNC45A):c.2805G>C (p.Gly935=)	RCCD1-AS1, UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1533268	NM_018671.5(UNC45A):c.2757T>G (p.Pro919=)	RCCD1-AS1, UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1507877	NM_018671.5(UNC45A):c.2735T>C (p.Leu912Pro)	RCCD1-AS1, UNC45A (L897P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473704	NM_018671.5(UNC45A):c.2824G>C (p.Asp942His)	RCCD1-AS1, UNC45A (D797H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473512	NM_018671.5(UNC45A):c.2455C>T (p.Arg819Ter)	RCCD1-AS1, UNC45A (R804* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1466260	NM_018671.5(UNC45A):c.2585_2586del (p.His862fs)	UNC45A, RCCD1-AS1 (H717fs +2 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1464622	NM_018671.5(UNC45A):c.2570C>T (p.Pro857Leu)	RCCD1-AS1, UNC45A (P712L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1462647	NM_018671.5(UNC45A):c.2641C>T (p.Arg881Trp)	RCCD1-AS1, UNC45A (R866W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1450719	NM_018671.5(UNC45A):c.2552C>T (p.Thr851Met)	RCCD1-AS1, UNC45A (T836M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1445422	NM_018671.5(UNC45A):c.2814A>G (p.Gln938=)	RCCD1-AS1, UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1444907	NM_018671.5(UNC45A):c.2377C>T (p.Arg793Trp)	RCCD1-AS1, UNC45A (R648W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1433325	NM_018671.5(UNC45A):c.2500C>G (p.Leu834Val)	RCCD1-AS1, UNC45A (L834V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1425405	NM_018671.5(UNC45A):c.2554C>T (p.Leu852Phe)	RCCD1-AS1, UNC45A (L707F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1423407	NM_018671.5(UNC45A):c.2546G>C (p.Arg849Pro)	RCCD1-AS1, UNC45A (R834P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1422171	NM_018671.5(UNC45A):c.2378G>A (p.Arg793Gln)	RCCD1-AS1, UNC45A (R778Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1420145	NM_018671.5(UNC45A):c.2830G>A (p.Glu944Lys)	RCCD1-AS1, UNC45A (E799K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1417841	NM_018671.5(UNC45A):c.2543T>C (p.Met848Thr)	RCCD1-AS1, UNC45A (M703T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1416449	NM_018671.5(UNC45A):c.2369T>C (p.Met790Thr)	RCCD1-AS1, UNC45A (M790T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1406890	NM_018671.5(UNC45A):c.2642G>A (p.Arg881Gln)	RCCD1-AS1, UNC45A (R866Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1394818	NM_018671.5(UNC45A):c.23C>T (p.Thr8Ile)	LOC130057954, UNC45A (T8I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1371003	NM_018671.5(UNC45A):c.2572C>G (p.Gln858Glu)	RCCD1-AS1, UNC45A (Q713E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1355474	NM_018671.5(UNC45A):c.2421+6G>C	RCCD1-AS1, UNC45A	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1353912	NM_018671.5(UNC45A):c.2423T>C (p.Val808Ala)	RCCD1-AS1, UNC45A (V663A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1345613	NM_018671.5(UNC45A):c.44C>T (p.Thr15Ile)	LOC130057954, UNC45A (T15I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

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