Related gene-specific medical variations for Gene (Select 1284) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369032	NM_001846.4(COL4A2):c.4565G>C (p.Gly1522Ala)	COL4A2, COL4A2-AS1 (G1522A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365649	NM_001846.4(COL4A2):c.4454G>T (p.Ser1485Ile)	COL4A2, COL4A2-AS1 (S1485I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363631	NM_001846.4(COL4A2):c.1577C>T (p.Pro526Leu)	COL4A2, COL4A2-AS2 (P526L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362056	NM_001846.4(COL4A2):c.3745G>A (p.Asp1249Asn)	COL4A2 (D1249N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360861	NM_001846.4(COL4A2):c.3271+1G>C	COL4A2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3359667	NM_001846.4(COL4A2):c.3809T>C (p.Ile1270Thr)	COL4A2 (I1270T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359574	NM_001846.4(COL4A2):c.934G>T (p.Glu312Ter)	COL4A2 (E312*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3355566	NM_001846.4(COL4A2):c.1406G>A (p.Gly469Glu)	COL4A2, COL4A2-AS2 (G469E)	Single nucleotide variant (missense variant)	COL4A2-related disorder	GUncertain significance
Select item 3353865	NM_001846.4(COL4A2):c.3916C>T (p.Leu1306Phe)	COL4A2, COL4A2-AS1 (L1306F)	Single nucleotide variant (missense variant)	COL4A2-related disorder	GUncertain significance
Select item 3353450	NM_001846.4(COL4A2):c.4677C>A (p.Ser1559Arg)	COL4A2, COL4A2-AS1 (S1559R)	Single nucleotide variant (missense variant)	COL4A2-related disorder	GUncertain significance
Select item 3348790	NM_001846.4(COL4A2):c.1740T>A (p.Asp580Glu)	COL4A2, COL4A2-AS2 (D580E)	Single nucleotide variant (missense variant)	COL4A2-related disorder	GUncertain significance
Select item 3342882	NM_001846.4(COL4A2):c.3977G>A (p.Gly1326Glu)	COL4A2, COL4A2-AS1 (G1326E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3268724	NM_001846.4(COL4A2):c.4775T>C (p.Val1592Ala)	COL4A2, COL4A2-AS1 (V1592A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268723	NM_001846.4(COL4A2):c.4535G>T (p.Trp1512Leu)	COL4A2, COL4A2-AS1 (W1512L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268722	NM_001846.4(COL4A2):c.4427C>T (p.Pro1476Leu)	COL4A2, COL4A2-AS1 (P1476L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257613	NM_001846.4(COL4A2):c.4088C>T (p.Ala1363Val)	COL4A2, COL4A2-AS1 (A1363V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244210	NC_000013.10:g.(?_111134843)_(111135026_?)del	COL4A2	Deletion	not provided	GUncertain significance
Select item 3233714	NM_001846.4(COL4A2):c.4441A>G (p.Met1481Val)	COL4A2, COL4A2-AS1 (M1481V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3147584	NM_001846.4(COL4A2):c.4792A>G (p.Ile1598Val)	COL4A2, COL4A2-AS1 (I1598V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3147583	NM_001846.4(COL4A2):c.4724T>C (p.Met1575Thr)	COL4A2, COL4A2-AS1 (M1575T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147582	NM_001846.4(COL4A2):c.4370C>A (p.Pro1457His)	COL4A2, COL4A2-AS1 (P1457H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147576	NM_001846.4(COL4A2):c.1343T>G (p.Phe448Cys)	COL4A2, COL4A2-AS2 (F448C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068973	NM_001846.4(COL4A2):c.1670-4C>G	COL4A2, COL4A2-AS2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3064677	NM_001846.4(COL4A2):c.2095G>A (p.Gly699Ser)	COL4A2 (G699S)	Single nucleotide variant (missense variant)	Hemorrhage, intracerebral, susceptibility to	GUncertain significance
Select item 3064432	NM_001846.4(COL4A2):c.2912G>A (p.Gly971Glu)	COL4A2 (G971E)	Single nucleotide variant (missense variant)	Hemorrhage, intracerebral, susceptibility to	GUncertain significance
Select item 3055770	NM_001846.4(COL4A2):c.4403-24_4419del	COL4A2, COL4A2-AS1	Microsatellite (splice acceptor variant)	COL4A2-related disorder	GLikely benign
Select item 3017834	NM_001846.4(COL4A2):c.4713G>A (p.Ala1571=)	COL4A2, COL4A2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014901	NM_001846.4(COL4A2):c.4646G>A (p.Cys1549Tyr)	COL4A2, COL4A2-AS1 (C1549Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000762	NM_001846.4(COL4A2):c.3982G>T (p.Ala1328Ser)	COL4A2, COL4A2-AS1 (A1328S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994609	NM_001846.4(COL4A2):c.4653T>C (p.Pro1551=)	COL4A2, COL4A2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989829	NM_001846.4(COL4A2):c.3958G>C (p.Gly1320Arg)	COL4A2, COL4A2-AS1 (G1320R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986939	NM_001846.4(COL4A2):c.4755C>G (p.Pro1585=)	COL4A2, COL4A2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984545	NM_001846.4(COL4A2):c.1525G>A (p.Gly509Arg)	COL4A2, COL4A2-AS2 (G509R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982920	NM_001846.4(COL4A2):c.1453T>C (p.Cys485Arg)	COL4A2, COL4A2-AS2 (C485R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980268	NM_001846.4(COL4A2):c.1611C>G (p.Asn537Lys)	COL4A2, COL4A2-AS2 (N537K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978250	NM_001846.4(COL4A2):c.1513G>T (p.Ala505Ser)	COL4A2, COL4A2-AS2 (A505S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976038	NM_001846.4(COL4A2):c.4512C>T (p.Cys1504=)	COL4A2, COL4A2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975119	NM_001846.4(COL4A2):c.4236C>G (p.Pro1412=)	COL4A2, COL4A2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968610	NM_001846.4(COL4A2):c.4138+16G>A	COL4A2, COL4A2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2967754	NM_001846.4(COL4A2):c.4594+18G>A	COL4A2, COL4A2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966341	NM_001846.4(COL4A2):c.4149G>T (p.Gly1383=)	COL4A2, COL4A2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965451	NM_001846.4(COL4A2):c.4455C>T (p.Ser1485=)	COL4A2, COL4A2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964107	NM_001846.4(COL4A2):c.4807C>A (p.His1603Asn)	COL4A2, COL4A2-AS1 (H1603N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2916712	NM_001846.4(COL4A2):c.4487G>C (p.Ser1496Thr)	COL4A2, COL4A2-AS1 (S1496T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904099	NM_001846.4(COL4A2):c.4600G>T (p.Ala1534Ser)	COL4A2, COL4A2-AS1 (A1534S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898812	NM_001846.4(COL4A2):c.1689C>T (p.Gly563=)	COL4A2, COL4A2-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896189	NM_001846.4(COL4A2):c.4803G>A (p.Ala1601=)	COL4A2, COL4A2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2890153	NM_001846.4(COL4A2):c.1452A>T (p.Arg484Ser)	COL4A2, COL4A2-AS2 (R484S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887898	NM_001846.4(COL4A2):c.4470C>T (p.Tyr1490=)	COL4A2, COL4A2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886492	NM_001846.4(COL4A2):c.1438G>A (p.Ala480Thr)	COL4A2, COL4A2-AS2 (A480T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2871899	NM_001846.4(COL4A2):c.4039+6A>T	COL4A2, COL4A2-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2870821	NM_001846.4(COL4A2):c.4800C>T (p.Ile1600=)	COL4A2, COL4A2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2847390	NM_001846.4(COL4A2):c.1507_1513del (p.Gly503fs)	COL4A2, COL4A2-AS2 (G503fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2844571	NM_001846.4(COL4A2):c.4286-11G>T	COL4A2, COL4A2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809267	NM_001846.4(COL4A2):c.1359del (p.Gly454fs)	COL4A2-AS2, COL4A2 (G454fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2807828	NM_001846.4(COL4A2):c.1776+20_1776+21delinsAA	COL4A2, COL4A2-AS2	Indel (intron variant)	not provided	GUncertain significance
Select item 2802260	NM_001846.4(COL4A2):c.1733G>C (p.Gly578Ala)	COL4A2, COL4A2-AS2 (G578A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784620	NM_001846.4(COL4A2):c.1558C>T (p.Pro520Ser)	COL4A2, COL4A2-AS2 (P520S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770671	NM_001846.4(COL4A2):c.4095del (p.Asp1366fs)	COL4A2, COL4A2-AS1 (D1366fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2758344	NM_001846.4(COL4A2):c.1433-13C>T	COL4A2, COL4A2-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2746787	NM_001846.4(COL4A2):c.4402+18_4402+43del	COL4A2, COL4A2-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2729228	NM_001846.4(COL4A2):c.4138+10C>T	COL4A2, COL4A2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2724208	NM_001846.4(COL4A2):c.4595-15C>T	COL4A2, COL4A2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2721267	NM_001846.4(COL4A2):c.4285+4G>T	COL4A2, COL4A2-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2691542	NM_001846.4(COL4A2):c.1340-10G>C	COL4A2, COL4A2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2688828	NM_001846.4(COL4A2):c.4230_4257del (p.Pro1413fs)	COL4A2, COL4A2-AS1 (P1413fs)	Deletion (frameshift variant)	Porencephaly 2	GUncertain significance
Select item 2665085	NM_001846.4(COL4A2):c.964C>T (p.Arg322Ter)	COL4A2 (R322*)	Single nucleotide variant (nonsense)	Porencephaly 2	GUncertain significance
Select item 2643956	NM_001846.4(COL4A2):c.4828C>T (p.Pro1610Ser)	COL4A2, COL4A2-AS1 (P1610S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2643955	NM_001846.4(COL4A2):c.4597C>A (p.Leu1533Met)	COL4A2, COL4A2-AS1 (L1533M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643953	NM_001846.4(COL4A2):c.1396G>A (p.Gly466Ser)	COL4A2, COL4A2-AS2 (G466S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643952	NM_001846.4(COL4A2):c.1340-4C>G	COL4A2, COL4A2-AS2	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2643951	NM_001846.4(COL4A2):c.1340-47C>T	COL4A2, COL4A2-AS2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2643950	NM_001846.4(COL4A2):c.1340-101T>G	COL4A2, COL4A2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2643949	NM_001846.4(COL4A2):c.1340-192G>C	COL4A2, COL4A2-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2643948	NM_001846.4(COL4A2):c.1340-439G>A	COL4A2, COL4A2-AS2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2637158	NM_001846.4(COL4A2):c.4670A>T (p.Tyr1557Phe)	COL4A2, COL4A2-AS1 (Y1557F)	Single nucleotide variant (missense variant)	COL4A2-related disorder	GUncertain significance
Select item 2634417	NM_001846.4(COL4A2):c.1623C>T (p.Pro541=)	COL4A2, COL4A2-AS2	Single nucleotide variant (synonymous variant)	COL4A2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2632851	NM_001846.4(COL4A2):c.1615G>A (p.Gly539Ser)	COL4A2, COL4A2-AS2 (G539S)	Single nucleotide variant (missense variant)	COL4A2-related disorder	GLikely pathogenic
Select item 2632823	NM_001846.4(COL4A2):c.1663del (p.Thr555fs)	COL4A2, COL4A2-AS2 (T555fs)	Deletion (frameshift variant)	COL4A2-related disorder	GUncertain significance
Select item 2631259	NM_001846.4(COL4A2):c.4536G>A (p.Trp1512Ter)	COL4A2, COL4A2-AS1 (W1512*)	Single nucleotide variant (nonsense)	COL4A2-related disorder	GUncertain significance
Select item 2630242	NM_001846.4(COL4A2):c.4139-2A>C	COL4A2, COL4A2-AS1	Single nucleotide variant (splice acceptor variant)	COL4A2-related disorder	GUncertain significance
Select item 2629899	NM_001846.4(COL4A2):c.1352G>A (p.Gly451Glu)	COL4A2, COL4A2-AS2 (G451E)	Single nucleotide variant (non-coding transcript variant +1 more)	COL4A2-related disorder	GUncertain significance
Select item 2627347	NM_001846.4(COL4A2):c.1754T>C (p.Phe585Ser)	COL4A2, COL4A2-AS2 (F585S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2627052	NM_001846.4(COL4A2):c.2555C>T (p.Pro852Leu)	COL4A2 (P852L)	Single nucleotide variant (missense variant)	Porencephaly 2	GUncertain significance
Select item 2621349	NM_001846.4(COL4A2):c.1561G>A (p.Gly521Ser)	COL4A2, COL4A2-AS2 (G521S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608473	NM_001846.4(COL4A2):c.1705G>A (p.Gly569Arg)	COL4A2, COL4A2-AS2 (G569R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580824	NM_001846.4(COL4A2):c.1663A>C (p.Thr555Pro)	COL4A2, COL4A2-AS2 (T555P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579161	NM_001846.4(COL4A2):c.4937G>C (p.Cys1646Ser)	COL4A2 (C1646S)	Single nucleotide variant (missense variant)	Porencephaly 2	GLikely pathogenic
Select item 2579147	NM_001846.4(COL4A2):c.3473G>C (p.Gly1158Ala)	COL4A2 (G1158A)	Single nucleotide variant (missense variant)	Porencephaly 2	GUncertain significance
Select item 2544721	NM_001846.4(COL4A2):c.1467C>G (p.Asp489Glu)	COL4A2, COL4A2-AS2 (D489E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539502	NM_001846.4(COL4A2):c.4741G>A (p.Asp1581Asn)	COL4A2, COL4A2-AS1 (D1581N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2502609	NM_001846.4(COL4A2):c.4780G>C (p.Glu1594Gln)	COL4A2, COL4A2-AS1 (E1594Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2500401	NM_001846.4(COL4A2):c.1762C>T (p.Leu588Phe)	COL4A2, COL4A2-AS2 (L588F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2494433	NM_001846.4(COL4A2):c.3892C>A (p.Pro1298Thr)	COL4A2, COL4A2-AS1 (P1298T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493071	NM_001846.4(COL4A2):c.1570G>C (p.Gly524Arg)	COL4A2, COL4A2-AS2 (G524R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2442208	NM_001846.4(COL4A2):c.4264C>T (p.Gln1422Ter)	COL4A2, COL4A2-AS1 (Q1422*)	Single nucleotide variant (nonsense)	Porencephaly 2	GUncertain significance
Select item 2441869	NM_001846.4(COL4A2):c.3976G>A (p.Gly1326Arg)	COL4A2, COL4A2-AS1 (G1326R)	Single nucleotide variant (missense variant)	Porencephaly 2 +1 more	GUncertain significance
Select item 2441713	NM_001846.4(COL4A2):c.3205del (p.Arg1069fs)	COL4A2 (R1069fs)	Deletion (frameshift variant)	Porencephaly 2	GUncertain significance
Select item 2440312	NM_001846.4(COL4A2):c.186G>T (p.Gln62His)	COL4A2 (Q62H)	Single nucleotide variant (missense variant)	Porencephaly 2	GUncertain significance
Select item 2430156	NM_001846.4(COL4A2):c.3369G>C (p.Glu1123Asp)	COL4A2 (E1123D)	Single nucleotide variant (missense variant)	Hemorrhage, intracerebral, susceptibility to	GUncertain significance

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