Related gene-specific medical variations for Gene (Select 51594) - ClinVar

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Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3177716	NM_015909.4(NBAS):c.103G>C (p.Glu35Gln)	LOC129933155, NBAS (E35Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3067840	NM_015909.4(NBAS):c.4311G>A (p.Trp1437Ter)	NBAS (W1437*)	Single nucleotide variant (nonsense +1 more)	Infantile liver failure syndrome 2	GUncertain significance
Select item 3065008	NM_015909.4(NBAS):c.3505_3506del (p.Lys1169fs)	NBAS (K1169fs)	Deletion (frameshift variant +1 more)	Infantile liver failure syndrome 2	GLikely pathogenic
Select item 3034464	NM_015909.4(NBAS):c.18A>G (p.Ser6=)	LOC129933155, NBAS	Single nucleotide variant (synonymous variant +1 more)	NBAS-related disorder	GLikely benign
Select item 3034229	NM_015909.4(NBAS):c.6G>C (p.Ala2=)	LOC129933155, NBAS	Single nucleotide variant (synonymous variant +1 more)	NBAS-related disorder	GLikely benign
Select item 2898165	NM_015909.4(NBAS):c.73G>A (p.Asp25Asn)	LOC129933155, NBAS (D25N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2813216	NM_015909.4(NBAS):c.17C>G (p.Ser6Ter)	LOC129933155, NBAS (S6*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2710699	NM_015909.4(NBAS):c.107C>T (p.Thr36Ile)	LOC129933155, NBAS (T36I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2684420	GRCh37/hg19 2p24.3(chr2:15281713-15394246)x1	NBAS	Copy number loss	not provided	GUncertain significance
Select item 2542886	NM_015909.4(NBAS):c.31A>C (p.Ser11Arg)	LOC129933155, NBAS (S11R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2504405	NM_015909.4(NBAS):c.23C>T (p.Pro8Leu)	LOC129933155, NBAS (P8L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2441822	NM_015909.4(NBAS):c.632G>T (p.Arg211Ile)	NBAS (R211I)	Single nucleotide variant (missense variant +1 more)	Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +1 more	GUncertain significance
Select item 2441821	NM_015909.4(NBAS):c.4255del (p.Ser1419fs)	NBAS (S1419fs)	Deletion (frameshift variant +1 more)	Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +1 more	GPathogenic
Select item 2434041	NM_015909.4(NBAS):c.5351A>G (p.His1784Arg)	NBAS (H1784R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2429424	NM_015909.4(NBAS):c.1202T>C (p.Val401Ala)	NBAS (V401A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2420077	NM_015909.4(NBAS):c.23C>A (p.Pro8Gln)	LOC129933155, NBAS (P8Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2323935	NM_015909.4(NBAS):c.49G>T (p.Gly17Cys)	LOC129933155, NBAS (G17C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2182314	NM_015909.4(NBAS):c.48G>A (p.Glu16=)	LOC129933155, NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2110221	NM_015909.4(NBAS):c.90C>A (p.Thr30=)	LOC129933155, NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2100493	NM_015909.4(NBAS):c.25G>A (p.Ala9Thr)	LOC129933155, NBAS (A9T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2031022	NM_015909.4(NBAS):c.45A>C (p.Ala15=)	LOC129933155, NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2015165	NM_015909.4(NBAS):c.60G>C (p.Glu20Asp)	LOC129933155, NBAS (E20D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1977876	NM_015909.4(NBAS):c.21G>A (p.Gly7=)	LOC129933155, NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1967698	NM_015909.4(NBAS):c.117+12C>G	LOC129933155, NBAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1958912	NM_015909.4(NBAS):c.39C>A (p.Gly13=)	LOC129933155, NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1951490	NM_015909.4(NBAS):c.24G>A (p.Pro8=)	LOC129933155, NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1950123	NM_015909.4(NBAS):c.20G>T (p.Gly7Val)	LOC129933155, NBAS (G7V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1926477	NM_015909.4(NBAS):c.117+15T>C	LOC129933155, NBAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1924639	NM_015909.4(NBAS):c.15G>A (p.Glu5=)	LOC129933155, NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1920767	NM_015909.4(NBAS):c.29T>A (p.Leu10Ter)	LOC129933155, NBAS (L10*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1906458	NM_015909.4(NBAS):c.97C>T (p.Pro33Ser)	LOC129933155, NBAS (P33S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1801439	NM_015909.4(NBAS):c.3590+180_3590+181insTTGCTTTTTTTTTTTTTTTTTGAGTACGTGAAGTCTCGCTCTGTCCGCACAGGATGGAGTGCAGTGGCGCGATTTCTCGCTCCCTGCAAGCTGCCGACCTCCCGGGTCACGCCATCTCCTGCCTCAGCCTCCCGAGCTAGCTGGGGCTACAGGCGCCCGCTACCACGCACGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTAGCCAGGATGGTCTCGATACGCCTAGACCTCGTGATCCGCCCGCCTCGCCTCCAAAGTGCTGTGGATTACAGGCGTACCACCCGCGCACCCCCGGCCCCATCAGCTTC	NBAS	Insertion (intron variant)	Schizophrenia	GUncertain significance
Select item 1718774	NM_015909.4(NBAS):c.41C>T (p.Thr14Ile)	LOC129933155, NBAS (T14I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1696343	NM_015909.4(NBAS):c.1A>T (p.Met1Leu)	LOC129933155, NBAS (M1L)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1609084	NM_015909.4(NBAS):c.102G>A (p.Pro34=)	LOC129933155, NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1590266	NM_015909.4(NBAS):c.12C>T (p.Pro4=)	LOC129933155, NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1579275	NM_015909.4(NBAS):c.93G>A (p.Glu31=)	NBAS, LOC129933155	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1563557	NM_015909.4(NBAS):c.9C>T (p.Ala3=)	LOC129933155, NBAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1492303	NM_015909.4(NBAS):c.33T>A (p.Ser11Arg)	LOC129933155, NBAS (S11R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1476260	NM_015909.4(NBAS):c.57G>T (p.Glu19Asp)	LOC129933155, NBAS (E19D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1467729	NM_015909.4(NBAS):c.81G>T (p.Leu27Phe)	LOC129933155, NBAS (L27F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1464515	NM_015909.4(NBAS):c.17C>T (p.Ser6Leu)	LOC129933155, NBAS (S6L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1447581	NM_015909.4(NBAS):c.4G>C (p.Ala2Pro)	NBAS, LOC129933155 (A2P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1442652	NM_015909.4(NBAS):c.1A>C (p.Met1Leu)	LOC129933155, NBAS (M1L)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GPathogenic
Select item 1442369	NM_015909.4(NBAS):c.16T>G (p.Ser6Ala)	LOC129933155, NBAS (S6A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1436559	NM_015909.4(NBAS):c.97C>G (p.Pro33Ala)	LOC129933155, NBAS (P33A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1423510	NM_015909.4(NBAS):c.11C>T (p.Pro4Leu)	LOC129933155, NBAS (P4L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1383701	NM_015909.4(NBAS):c.5C>T (p.Ala2Val)	LOC129933155, NBAS (A2V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1374765	NM_015909.4(NBAS):c.19G>C (p.Gly7Arg)	LOC129933155, NBAS (G7R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1366284	NM_015909.4(NBAS):c.13G>A (p.Glu5Lys)	LOC129933155, NBAS (E5K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1345394	NM_015909.4(NBAS):c.26C>T (p.Ala9Val)	LOC129933155, NBAS (A9V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1340009	GRCh37/hg19 2p24.3(chr2:15467822-15543354)x1	NBAS	Copy number loss	not provided	GUncertain significance
Select item 1323328	NM_015909.4(NBAS):c.1858A>T (p.Lys620Ter)	NBAS (K620*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 1000219	NM_015909.4(NBAS):c.8C>T (p.Ala3Val)	LOC129933155, NBAS (A3V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 999257	NM_015909.4(NBAS):c.8C>A (p.Ala3Asp)	LOC129933155, NBAS (A3D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 838205	NM_015909.4(NBAS):c.17C>A (p.Ser6Ter)	LOC129933155, NBAS (S6*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 814221	GRCh37/hg19 2p24.3(chr2:15451296-15609156)x1	NBAS	Copy number loss	not provided	GUncertain significance
Select item 814220	GRCh37/hg19 2p24.3(chr2:15310819-15679132)x1	NBAS	Copy number loss	not provided	GUncertain significance
Select item 688670	GRCh37/hg19 2p24.3(chr2:15338744-15670360)x1	NBAS	Copy number loss	not provided	GPathogenic
Select item 687033	GRCh37/hg19 2p24.3(chr2:15133366-15730846)x1	NBAS	Copy number loss	not provided	GUncertain significance
Select item 685527	GRCh37/hg19 2p24.3(chr2:15467856-15545273)x3	NBAS	Copy number gain	not provided	GUncertain significance
Select item 624565	NM_015909.3:c.(?_5028)_(5724_?)del	NBAS	Deletion	Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome	GLikely pathogenic
Select item 562579	GRCh37/hg19 2p24.3(chr2:15306731-15682993)x1	NBAS	Copy number loss	not provided	GUncertain significance
Select item 562524	GRCh37/hg19 2p24.3(chr2:15310738-15450979)x1	NBAS	Copy number loss	not provided	GUncertain significance
Select item 562492	GRCh37/hg19 2p24.3(chr2:15593433-15656036)x1	NBAS	Copy number loss	not provided	GUncertain significance
Select item 562483	GRCh37/hg19 2p24.3(chr2:15351425-15403185)x1	NBAS	Copy number loss	not provided	GUncertain significance
Select item 445960	NM_015909.4(NBAS):c.2167C>T (p.Gln723Ter)	NBAS (Q723*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 445784	NM_015909.4(NBAS):c.3348T>G (p.Asp1116Glu)	NBAS (D1116E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Links from Gene

Items: 68