CR1L[gene] - ClinVar

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Items: 67

	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 150129	GRCh38/hg38 1q32.2(chr1:207583527-210159181)x1	C1orf74, CAMK1G +97 more	Copy number loss	See cases	GPathogenic
Select item 3077062	NM_175710.2(CR1L):c.5C>T (p.Ala2Val)	CR1L, LOC129932403 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534825	NM_175710.2(CR1L):c.31T>C (p.Phe11Leu)	CR1L (F11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639876	NM_175710.2(CR1L):c.51T>A (p.Pro17=)	CR1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2511601	NM_175710.2(CR1L):c.65C>A (p.Ala22Glu)	CR1L (A22E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316937	NM_175710.2(CR1L):c.113C>T (p.Pro38Leu)	CR1L (P38L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077060	NM_175710.2(CR1L):c.196C>T (p.Arg66Cys)	CR1L (R66C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338748	NM_175710.2(CR1L):c.218C>G (p.Pro73Arg)	CR1L (P73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605322	NM_175710.2(CR1L):c.242A>G (p.Asn81Ser)	CR1L (N81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269365	NM_175710.2(CR1L):c.301G>C (p.Asp101His)	CR1L (D101H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539776	NM_175710.2(CR1L):c.317T>C (p.Met106Thr)	CR1L (M106T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311660	NM_175710.2(CR1L):c.329T>A (p.Ile110Asn)	CR1L (I110N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269364	NM_175710.2(CR1L):c.335A>G (p.Asp112Gly)	CR1L (D112G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254246	NM_175710.2(CR1L):c.395C>A (p.Ser132Tyr)	CR1L (S132Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353961	NM_175710.2(CR1L):c.398C>T (p.Ser133Leu)	CR1L (S133L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326724	NM_175710.2(CR1L):c.472T>C (p.Cys158Arg)	CR1L (C158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510814	NM_175710.2(CR1L):c.493G>A (p.Ala165Thr)	CR1L (A165T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518257	NM_175710.2(CR1L):c.557A>G (p.His186Arg)	CR1L (H186R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077061	NM_175710.2(CR1L):c.585G>T (p.Lys195Asn)	CR1L (K195N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387202	NM_175710.2(CR1L):c.651G>C (p.Trp217Cys)	CR1L (W217C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285797	NM_175710.2(CR1L):c.775C>G (p.Gln259Glu)	CR1L (Q259E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077063	NM_175710.2(CR1L):c.778C>T (p.Pro260Ser)	CR1L (P260S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639877	NM_175710.2(CR1L):c.804C>T (p.Ser268=)	CR1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609434	NM_175710.2(CR1L):c.827A>G (p.Asn276Ser)	CR1L (N276S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360874	NM_175710.2(CR1L):c.899G>A (p.Arg300His)	CR1L (R300H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077064	NM_175710.2(CR1L):c.912C>G (p.Asp304Glu)	CR1L (D304E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619488	NM_175710.2(CR1L):c.953G>A (p.Cys318Tyr)	CR1L (C318Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613807	NM_175710.2(CR1L):c.1046C>T (p.Ser349Phe)	CR1L (S349F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469091	NM_175710.2(CR1L):c.1096C>G (p.Leu366Val)	CR1L (L366V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611852	NM_175710.2(CR1L):c.1112G>A (p.Gly371Glu)	CR1L (G371E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077057	NM_175710.2(CR1L):c.1240G>A (p.Glu414Lys)	CR1L (E414K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2343069	NM_175710.2(CR1L):c.1253T>A (p.Val418Asp)	CR1L (V418D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2548409	NM_175710.2(CR1L):c.1319G>C (p.Cys440Ser)	CR1L (C440S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273411	NM_175710.2(CR1L):c.1339A>T (p.Ile447Phe)	CR1L (I447F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077058	NM_175710.2(CR1L):c.1349C>T (p.Ser450Leu)	CR1L (S450L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607692	NM_175710.2(CR1L):c.1376A>G (p.Asn459Ser)	CR1L (N459S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207188	NM_175710.2(CR1L):c.1378A>G (p.Thr460Ala)	CR1L (T460A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311512	NM_175710.2(CR1L):c.1405A>G (p.Ile469Val)	CR1L (I469V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246189	NM_175710.2(CR1L):c.1444C>G (p.Leu482Val)	CR1L (L482V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269363	NM_175710.2(CR1L):c.1471C>T (p.Leu491Phe)	CR1L (L491F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077059	NM_175710.2(CR1L):c.1510T>A (p.Cys504Ser)	CR1L (C504S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269366	NM_175710.2(CR1L):c.1516C>T (p.Pro506Ser)	CR1L (P506S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236492	NM_175710.2(CR1L):c.1550T>C (p.Ile517Thr)	CR1L (I517T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269362	NM_175710.2(CR1L):c.1568G>A (p.Arg523His)	CR1L (R523H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366061	NM_175710.2(CR1L):c.1579G>A (p.Glu527Lys)	CR1L (E527K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390296	NM_175710.2(CR1L):c.1630C>T (p.Pro544Ser)	CR1L (P544S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2390297	NM_175710.2(CR1L):c.1636G>C (p.Gly546Arg)	CR1L (G546R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390299	NM_175710.2(CR1L):c.1637G>C (p.Gly546Ala)	CR1L (G546A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1409891	NC_000001.10:g.(?_206941981)_(208391267_?)dup	C1orf116, C4BPA +19 more	Duplication	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 688022	GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3	ANGEL2, ATF3 +63 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	CAMK1G, CD34 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 67