ClinVar (all) for Orgtrack (Select 279559) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1722323	NM_000041.4(APOE):c.-24+82G>A	APOE (D19N)	Single nucleotide variant (missense variant +1 more)	Alzheimer disease 2	GUncertain significance
Select item 1722322	NM_001083962.2(TCF4):c.1166G>T (p.Arg389Leu)	TCF4 (R173L +13 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GLikely pathogenic
Select item 1722321	NM_005120.3(MED12):c.728T>C (p.Met243Thr)	MED12 (M243T)	Single nucleotide variant (missense variant)	FG syndrome 1	GUncertain significance
Select item 1722320	NM_001429.4(EP300):c.3733del (p.Val1245fs)	EP300 (V1219fs +1 more)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely pathogenic
Select item 1722319	NM_001845.6(COL4A1):c.2472A>G (p.Ile824Met)	COL4A1 (I824M)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GUncertain significance
Select item 1722318	NM_001374828.1(ARID1B):c.2851C>T (p.Gln951Ter)	ARID1B (Q118* +5 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1	GPathogenic
Select item 1722317	NM_001347721.2(DYRK1A):c.986dup (p.Tyr329Ter)	DYRK1A (Y300* +2 more)	Duplication (nonsense)	DYRK1A-related intellectual disability syndrome	GPathogenic
Select item 1722316	NM_015335.5(MED13L):c.4011_4024del (p.Ile1338fs)	MED13L (I1338fs)	Deletion (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 1722315	NM_001371928.1(AHDC1):c.2520dup (p.Arg841fs)	AHDC1 (R841fs)	Duplication (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GLikely pathogenic
Select item 1722314	NM_003482.4(KMT2D):c.8032G>C (p.Glu2678Gln)	KMT2D (E2678Q)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1722313	NM_006918.5(SC5D):c.608T>C (p.Ile203Thr)	SC5D (I203T)	Single nucleotide variant (missense variant)	Lathosterolosis	GUncertain significance
Select item 1722312	NM_001379451.1(BCORL1):c.1562_1563del (p.Leu521fs)	BCORL1 (L521fs)	Deletion (frameshift variant)	Shukla-Vernon syndrome	GLikely pathogenic
Select item 1710177	NM_000264.5(PTCH1):c.3921del (p.Arg1308fs)	PTCH1 (R1157fs +4 more)	Deletion (frameshift variant +1 more)	Gorlin syndrome	GLikely pathogenic
Select item 1705817	NM_000271.5(NPC1):c.1612_1619dup (p.Phe542fs)	NPC1 (F542fs)	Duplication (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705816	NM_000271.5(NPC1):c.1510_1512del (p.Phe504del)	NPC1 (F504del)	Deletion (inframe_deletion)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705815	NM_000271.5(NPC1):c.1451del (p.Val484fs)	NPC1 (V484fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705814	NM_000271.5(NPC1):c.924_927del (p.Asn308fs)	NPC1 (N308fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705813	NM_000271.5(NPC1):c.895del (p.Val299fs)	NPC1 (V299fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705812	NM_000271.5(NPC1):c.803_805dup (p.Met268_Tyr269insLeu)	NPC1	Duplication (inframe_insertion)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705811	NM_000271.5(NPC1):c.762del (p.Pro255fs)	NPC1 (P255fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705810	NM_000271.5(NPC1):c.754del (p.Gln252fs)	NPC1 (Q252fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705809	NM_000271.5(NPC1):c.749_755del (p.Lys250fs)	NPC1 (K250fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705808	NM_000271.5(NPC1):c.692_693del (p.Val231fs)	NPC1 (V231fs)	Microsatellite (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705807	NM_000271.5(NPC1):c.574T>C (p.Tyr192His)	NPC1 (Y192H)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GConflicting classifications of pathogenicity
Select item 1705806	NM_000271.5(NPC1):c.551G>C (p.Cys184Ser)	NPC1 (C184S)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +1 more	GConflicting classifications of pathogenicity
Select item 1705805	NM_000271.5(NPC1):c.1339C>A (p.Gln447Lys)	NPC1 (Q447K)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705804	NM_000271.5(NPC1):c.532G>A (p.Gly178Arg)	NPC1 (G178R)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705803	NM_000271.5(NPC1):c.529T>C (p.Cys177Arg)	NPC1 (C177R)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705802	NM_000271.5(NPC1):c.497C>A (p.Pro166His)	NPC1 (P166H)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705801	NM_000271.5(NPC1):c.428_429del (p.Glu143fs)	NPC1 (E143fs)	Microsatellite (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705800	NM_000271.5(NPC1):c.392dup (p.Asp131fs)	NPC1 (D131fs)	Duplication (frameshift variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705799	NM_000271.5(NPC1):c.3732_3735del (p.Pro1245fs)	NPC1 (P1245fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705798	NM_000271.5(NPC1):c.370dup (p.Thr124fs)	NPC1 (T124fs)	Duplication (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705797	NM_000271.5(NPC1):c.3614C>T (p.Thr1205Ile)	NPC1 (T1205I)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705796	NM_000271.5(NPC1):c.3559del (p.Ala1187fs)	NPC1 (A1187fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705795	NM_000271.5(NPC1):c.3490T>C (p.Ser1164Pro)	NPC1 (S1164P)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705794	NM_000271.5(NPC1):c.1286T>G (p.Val429Gly)	NPC1 (V429G)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705793	NM_000271.5(NPC1):c.3412_3413del (p.Met1138fs)	NPC1 (M1138fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705792	NM_000271.5(NPC1):c.338G>A (p.Cys113Tyr)	NPC1 (C113Y)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705791	NM_000271.5(NPC1):c.3347del (p.Leu1116fs)	NPC1 (L1116fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705790	NM_000271.5(NPC1):c.3314C>A (p.Ser1105Tyr)	NPC1 (S1105Y)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705789	NM_000271.5(NPC1):c.3279CAT[1] (p.Ile1095del)	NPC1 (I1095del)	Microsatellite (inframe_deletion)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705788	NM_000271.5(NPC1):c.3281del (p.Ile1094fs)	NPC1 (I1094fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705787	NM_000271.5(NPC1):c.3265G>C (p.Glu1089Gln)	NPC1 (E1089Q)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705786	NM_000271.4(NPC1):c.3249_3250del	NPC1	Microsatellite	Niemann-Pick disease, type C1	GPathogenic
Select item 1705785	NM_000271.5(NPC1):c.3245+1G>T	NPC1	Single nucleotide variant (splice donor variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705784	NM_000271.5(NPC1):c.3154_3156del (p.Ile1052del)	NPC1 (I1052del)	Deletion (inframe_deletion)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705783	NM_000271.5(NPC1):c.1238dup (p.Leu414fs)	NPC1 (L414fs)	Duplication (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705782	NM_000271.5(NPC1):c.3096_3116delinsCAGGTCG (p.Arg1032fs)	NPC1 (R1032fs)	Indel (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705781	NM_000271.5(NPC1):c.3041+1G>T	NPC1	Single nucleotide variant (splice donor variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705780	NM_000271.5(NPC1):c.3032_3038delinsAGGTTTACTC (p.Cys1011_Lys1013delinsTer)	NPC1	Indel (nonsense)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705779	NM_000271.5(NPC1):c.3003del (p.Met1001fs)	NPC1 (M1001fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705778	NM_000271.5(NPC1):c.2908dup (p.Ser970fs)	NPC1 (S970fs)	Duplication (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705777	NM_000271.5(NPC1):c.2882_2897delinsG (p.Asn961_Phe966delinsSer)	NPC1	Indel (inframe_indel)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705776	NM_000271.5(NPC1):c.2782C>T (p.Gln928Ter)	NPC1 (Q928*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705775	NM_000271.5(NPC1):c.2770T>C (p.Phe924Leu)	NPC1 (F924L)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705774	NM_000271.5(NPC1):c.2758G>A (p.Val920Met)	NPC1 (V920M)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705773	NM_000271.5(NPC1):c.2736_2751del (p.Met912fs)	NPC1 (M912fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705772	NM_000271.5(NPC1):c.1180_1181dup (p.Phe395fs)	NPC1 (F395fs)	Duplication (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705771	NM_000271.5(NPC1):c.2719del (p.Met907fs)	NPC1 (M907fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705770	NM_000271.5(NPC1):c.2695T>C (p.Tyr899His)	NPC1 (Y899H)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705769	NM_000271.5(NPC1):c.2647del (p.Leu883fs)	NPC1 (L883fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705768	NM_000271.5(NPC1):c.2612del (p.Tyr871fs)	NPC1 (Y871fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705767	NM_000271.5(NPC1):c.2604+2T>G	NPC1	Single nucleotide variant (splice donor variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705766	NM_000271.5(NPC1):c.2515-2A>G	NPC1	Single nucleotide variant (splice acceptor variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705765	NM_000271.5(NPC1):c.2158_2162del (p.Leu720fs)	NPC1 (L720fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705764	NM_000271.5(NPC1):c.2146C>T (p.Gln716Ter)	NPC1 (Q716*)	Single nucleotide variant (nonsense)	Niemann-Pick disease, type C1	GPathogenic/Likely pathogenic
Select item 1705763	NM_000271.4(NPC1):c.2134_2135del	NPC1	Microsatellite	Niemann-Pick disease, type C1	GPathogenic
Select item 1705762	NM_000271.5(NPC1):c.2130+1G>C	NPC1	Single nucleotide variant (splice donor variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705761	NM_000271.5(NPC1):c.1110_1113del (p.Val371fs)	NPC1 (V371fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705760	NM_000271.5(NPC1):c.2086del (p.Ala696fs)	NPC1 (A696fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic/Likely pathogenic
Select item 1705759	NM_000271.5(NPC1):c.2077del (p.Leu693fs)	NPC1 (L693fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705758	NM_000271.5(NPC1):c.2027G>T (p.Ser676Ile)	NPC1 (S676I)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705757	NM_000271.5(NPC1):c.1780_1782del (p.Tyr594del)	NPC1 (Y594del)	Deletion (inframe_deletion)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705756	NM_000271.5(NPC1):c.1757+2T>G	NPC1	Single nucleotide variant (splice donor variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705755	NM_000271.5(NPC1):c.1757+2_1757+3del	NPC1	Deletion (splice donor variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705754	NM_000271.5(NPC1):c.1757+1G>T	NPC1	Single nucleotide variant (splice donor variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705753	NM_000271.5(NPC1):c.1747_1755delinsAT (p.Trp583fs)	NPC1 (W583fs)	Indel (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705752	NM_000271.5(NPC1):c.1654+1dup	NPC1	Duplication (splice donor variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705751	NM_000271.5(NPC1):c.1615G>A (p.Gly539Arg)	NPC1 (G539R)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1	GLikely pathogenic
Select item 1705750	NM_000271.5(NPC1):c.1084_1093del (p.Thr362fs)	NPC1 (T362fs)	Deletion (frameshift variant)	Niemann-Pick disease, type C1	GPathogenic
Select item 1705386	NM_003108.4(SOX11):c.190C>T (p.Arg64Cys)	SOX11 (R64C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 27	GLikely pathogenic
Select item 1698663	NM_133259.4(LRPPRC):c.7G>T (p.Ala3Ser)	LRPPRC (A3S)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +2 more	GConflicting classifications of pathogenicity
Select item 1342015	NM_033380.3(COL4A5):c.466G>C (p.Gly156Arg)	COL4A5 (G156R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 1342014	NM_033380.3(COL4A5):c.3554-2A>G	COL4A5	Single nucleotide variant (splice acceptor variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1342013	NM_033380.3(COL4A5):c.1374delinsTT (p.Pro459fs)	COL4A5 (P459fs)	Indel (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 1342012	NM_033380.3(COL4A5):c.2777G>T (p.Gly926Val)	COL4A5 (G926V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 1342011	NM_033380.3(COL4A5):c.883G>A (p.Gly295Ser)	COL4A5 (G295S)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 1342010	NM_033380.3(COL4A5):c.347del (p.Pro116fs)	COL4A5 (P116fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 1342009	NM_033380.3(COL4A5):c.1418_1419del (p.Val473fs)	COL4A5 (V473fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 1342008	NM_000092.5(COL4A4):c.4910G>A (p.Arg1637Gln)	COL4A4 (R1637Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1342007	NM_000092.5(COL4A4):c.657+2dup	COL4A4	Duplication (splice donor variant)	Benign familial hematuria	GLikely pathogenic
Select item 1342006	NM_000092.5(COL4A4):c.4720C>T (p.Gln1574Ter)	COL4A4 (Q1574*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1342005	NM_033380.3(COL4A5):c.3106+1G>A	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 1342004	NM_000092.5(COL4A4):c.4151C>T (p.Ala1384Val)	COL4A4 (A1384V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1342003	NM_000091.5(COL4A3):c.2188G>C (p.Gly730Arg)	COL4A3, MFF-DT (G730R)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GUncertain significance
Select item 1342002	NM_000091.5(COL4A3):c.593G>T (p.Gly198Val)	COL4A3, MFF-DT (G198V)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GUncertain significance
Select item 1342001	NM_000091.5(COL4A3):c.3247G>C (p.Gly1083Arg)	COL4A3, MFF-DT (G1083R)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome	GUncertain significance
Select item 1342000	NM_000091.5(COL4A3):c.4717G>A (p.Gly1573Ser)	COL4A3, MFF-DT (G1573S)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome	GUncertain significance
Select item 1341999	NM_000091.5(COL4A3):c.1021C>T (p.Arg341Cys)	COL4A3, MFF-DT (R341C)	Single nucleotide variant (missense variant)	Autosomal dominant Alport syndrome +2 more	GUncertain significance

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