CR1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 3269360	NM_000651.6(CR1):c.89T>C (p.Val30Ala)	CR1 (V30A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050082	NM_000651.6(CR1):c.148C>T (p.Pro50Ser)	CR1 (P50S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269348	NM_000651.6(CR1):c.218G>T (p.Cys73Phe)	CR1 (C73F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024765	NM_000651.6(CR1):c.313C>T (p.Arg105Cys)	CR1 (R105C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3067276	NM_000651.6(CR1):c.345G>T (p.Val115=)	CR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2383572	NM_000651.6(CR1):c.353T>C (p.Ile118Thr)	CR1 (I118T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616944	NM_000651.6(CR1):c.473C>T (p.Thr158Ile)	CR1 (T158I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560418	NM_000651.6(CR1):c.529T>G (p.Phe177Val)	CR1 (F177V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600161	NM_000651.6(CR1):c.565T>G (p.Ser189Ala)	CR1 (S189A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269343	NM_000651.6(CR1):c.590C>T (p.Pro197Leu)	CR1 (P197L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077052	NM_000651.6(CR1):c.598G>A (p.Gly200Arg)	CR1 (G200R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2411656	NM_000651.6(CR1):c.640T>C (p.Tyr214His)	CR1 (Y214H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077054	NM_000651.6(CR1):c.788A>C (p.Glu263Ala)	CR1 (E263A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324520	NM_000651.6(CR1):c.802C>T (p.Pro268Ser)	CR1 (P268S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067527	NM_000651.6(CR1):c.804T>G (p.Pro268=)	CR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 807910	NM_000651.6(CR1):c.810T>C (p.Phe270=)	CR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2470090	NM_000651.6(CR1):c.815T>G (p.Met272Arg)	CR1 (M272R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077055	NM_000651.6(CR1):c.829C>T (p.Arg277Cys)	CR1 (R277C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454716	NM_000651.6(CR1):c.830G>A (p.Arg277His)	CR1 (R277H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578595	NM_000651.6(CR1):c.849G>A (p.Leu283=)	CR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3077056	NM_000651.6(CR1):c.895C>T (p.Pro299Ser)	CR1 (P299S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391261	NM_000651.6(CR1):c.922C>T (p.Arg308Cys)	CR1 (R308C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2681212	NM_000651.6(CR1):c.978T>C (p.Cys326=)	CR1	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2639870	NM_000651.6(CR1):c.990C>T (p.Tyr330=)	CR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3077028	NM_000651.6(CR1):c.1049C>T (p.Ala350Val)	CR1 (A350V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394007	NM_000651.6(CR1):c.1055C>G (p.Thr352Arg)	CR1 (T352R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2260059	NM_000651.6(CR1):c.1123A>T (p.Asn375Tyr)	CR1 (N375Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348399	NM_000651.6(CR1):c.1747A>C (p.Thr583Pro)	CR1 (T583P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2321285	NM_000651.6(CR1):c.1868C>T (p.Ala623Val)	CR1 (A173V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395777	NM_000651.6(CR1):c.2137G>C (p.Glu713Gln)	CR1 (E263Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241473	NM_000651.6(CR1):c.2176C>T (p.Arg726Cys)	CR1 (R726C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672381	NM_000651.6(CR1):c.2365C>A (p.Arg789Ser)	CR1 (R339S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 807911	NM_000651.6(CR1):c.2413+5C>T	CR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2591305	NM_000651.6(CR1):c.3626C>A (p.Thr1209Asn)	CR1 (T1209N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391929	NM_000651.6(CR1):c.3640G>T (p.Asp1214Tyr)	CR1 (D764Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639871	NM_000651.6(CR1):c.3654C>T (p.Pro1218=)	CR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3269350	NM_000651.6(CR1):c.3655G>A (p.Gly1219Arg)	CR1 (G1219R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639872	NM_000651.6(CR1):c.3689A>G (p.Tyr1230Cys)	CR1 (Y1230C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2272270	NM_000651.6(CR1):c.3716G>A (p.Arg1239His)	CR1 (R1239H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241140	NM_000651.6(CR1):c.3746C>T (p.Ala1249Val)	CR1 (A799V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269355	NM_000651.6(CR1):c.3803G>A (p.Gly1268Asp)	CR1 (G1268D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077029	NM_000651.6(CR1):c.3805C>T (p.Arg1269Cys)	CR1 (R819C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077030	NM_000651.6(CR1):c.3841A>G (p.Lys1281Glu)	CR1 (K831E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704360	NM_000651.6(CR1):c.3879del (p.Gly1294fs)	CR1 (G1294fs)	Deletion (frameshift variant)	KNOPS BLOOD GROUP SYSTEM	GUncertain significance
Select item 2301022	NM_000651.6(CR1):c.3887C>T (p.Ser1296Phe)	CR1 (S1296F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3077031	NM_000651.6(CR1):c.3914T>C (p.Met1305Thr)	CR1 (M1305T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269342	NM_000651.6(CR1):c.3937G>A (p.Val1313Ile)	CR1 (V1313I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077032	NM_000651.6(CR1):c.3940C>T (p.Pro1314Ser)	CR1 (P864S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600043	NM_000651.6(CR1):c.3964C>A (p.Pro1322Thr)	CR1 (P1322T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639873	NM_000651.6(CR1):c.3979A>G (p.Ile1327Val)	CR1 (I1327V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3077033	NM_000651.6(CR1):c.3994C>T (p.His1332Tyr)	CR1 (H882Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607081	NM_000651.6(CR1):c.4024T>A (p.Phe1342Ile)	CR1 (F1342I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250449	NM_000651.6(CR1):c.4051G>A (p.Asp1351Asn)	CR1 (D1351N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077034	NM_000651.6(CR1):c.4073C>T (p.Thr1358Met)	CR1 (T1358M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2509803	NM_000651.6(CR1):c.4081G>A (p.Asp1361Asn)	CR1 (D911N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374323	NM_000651.6(CR1):c.4106G>A (p.Arg1369His)	CR1 (R1369H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218948	NM_000651.6(CR1):c.4157G>A (p.Arg1386His)	CR1 (R936H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378538	NM_000651.6(CR1):c.4474T>C (p.Ser1492Pro)	CR1 (S1042P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615179	NM_000651.6(CR1):c.4546T>C (p.Cys1516Arg)	CR1 (C1516R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324918	NM_000651.6(CR1):c.4630C>A (p.Arg1544Ser)	CR1 (R1544S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269341	NM_000651.6(CR1):c.4722C>G (p.Ile1574Met)	CR1 (I1574M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077035	NM_000651.6(CR1):c.4729G>A (p.Gly1577Ser)	CR1 (G1577S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516866	NM_000651.6(CR1):c.4766C>T (p.Thr1589Met)	CR1 (T1139M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2546413	NM_000651.6(CR1):c.4790T>C (p.Ile1597Thr)	CR1 (I1597T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269358	NM_000651.6(CR1):c.4832T>G (p.Val1611Gly)	CR1 (V1611G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077037	NM_000651.6(CR1):c.4880G>A (p.Arg1627His)	CR1 (R1627H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554238	NM_000651.6(CR1):c.4925G>T (p.Ser1642Ile)	CR1 (S1642I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490548	NM_000651.6(CR1):c.4951C>G (p.Pro1651Ala)	CR1 (P1201A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 17066	NM_000651.6(CR1):c.4973A>G (p.His1658Arg)	CR1 (H1658R)	Single nucleotide variant (missense variant)	CR1-related disorder +1 more	GBenign; protective
Select item 3269361	NM_000651.6(CR1):c.5054C>T (p.Ala1685Val)	CR1 (A1685V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269346	NM_000651.6(CR1):c.5102C>T (p.Pro1701Leu)	CR1 (P1701L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535105	NM_000651.6(CR1):c.5131T>A (p.Phe1711Ile)	CR1 (F1261I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269347	NM_000651.6(CR1):c.5257G>A (p.Val1753Ile)	CR1 (V1753I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047970	NM_000651.6(CR1):c.5302C>T (p.His1768Tyr)	CR1 (H1318Y +1 more)	Single nucleotide variant (missense variant)	CR1-related disorder	GBenign
Select item 150129	GRCh38/hg38 1q32.2(chr1:207583527-210159181)x1	C1orf74, CAMK1G +97 more	Copy number loss	See cases	GPathogenic
Select item 2488624	NM_000651.6(CR1):c.5344C>T (p.His1782Tyr)	CR1 (H1332Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269353	NM_000651.6(CR1):c.5465G>A (p.Ser1822Asn)	CR1 (S1822N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608266	NM_000651.6(CR1):c.5552A>G (p.Gln1851Arg)	CR1 (Q1401R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038909	NM_000651.6(CR1):c.5572A>G (p.Thr1858Ala)	CR1 (T1408A +1 more)	Single nucleotide variant (missense variant)	CR1-related disorder	GBenign
Select item 2622233	NM_000651.6(CR1):c.5581A>G (p.Ile1861Val)	CR1 (I1861V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639874	NM_000651.6(CR1):c.5604C>T (p.Val1868=)	CR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3052016	NM_000651.6(CR1):c.5605G>A (p.Gly1869Arg)	CR1 (G1419R +1 more)	Single nucleotide variant (missense variant)	CR1-related disorder	GLikely benign
Select item 3269349	NM_000651.6(CR1):c.5632C>T (p.Pro1878Ser)	CR1 (P1878S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2440534	NM_000651.6(CR1):c.5652G>A (p.Met1884Ile)	CR1 (M1434I +1 more)	Single nucleotide variant (missense variant)	KNOPS BLOOD GROUP SYSTEM +1 more	GConflicting classifications of pathogenicity
Select item 2639875	NM_000651.6(CR1):c.5706T>C (p.Cys1902=)	CR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3269352	NM_000651.6(CR1):c.5708G>A (p.Arg1903Lys)	CR1 (R1903K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291757	NM_000651.6(CR1):c.5728C>T (p.Pro1910Ser)	CR1 (P1460S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077038	NM_000651.6(CR1):c.5746G>A (p.Gly1916Arg)	CR1 (G1466R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077039	NM_000651.6(CR1):c.5752G>A (p.Val1918Met)	CR1 (V1918M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 445843	NM_000651.6(CR1):c.5811-11C>A	CR1	Single nucleotide variant (intron variant)	KNOPS BLOOD GROUP SYSTEM +2 more	GLikely benign
Select item 2208874	NM_000651.6(CR1):c.5848G>A (p.Val1950Ile)	CR1 (V1500I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540999	NM_000651.6(CR1):c.5881G>C (p.Ala1961Pro)	CR1 (A1961P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056664	NM_000651.6(CR1):c.5969A>G (p.Asn1990Ser)	CR1 (N1540S +1 more)	Single nucleotide variant (missense variant)	CR1-related disorder	GBenign
Select item 2389450	NM_000651.6(CR1):c.5972G>A (p.Gly1991Glu)	CR1 (G1541E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269344	NM_000651.6(CR1):c.6005C>A (p.Pro2002Gln)	CR1 (P2002Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593722	NM_000651.6(CR1):c.6040C>T (p.Arg2014Trp)	CR1 (R1564W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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