C1QL1[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 1342375	NC_000017.11:g.44846894_44962103del	C1QL1, CCDC103 +9 more	Deletion	not provided	GPathogenic
Select item 60171	GRCh38/hg38 17q21.31(chr17:44906235-45220406)x3	ACBD4, C1QL1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 59587	GRCh38/hg38 17q21.31(chr17:44928498-45299730)x1	ACBD4, C1QL1 +54 more	Copy number loss	See cases	GPathogenic
Select item 2550743	NM_006688.5(C1QL1):c.764T>C (p.Ile255Thr)	C1QL1 (I255T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135721	NM_006688.5(C1QL1):c.676G>C (p.Ala226Pro)	C1QL1 (A226P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613722	NM_006688.5(C1QL1):c.655A>G (p.Ser219Gly)	C1QL1 (S219G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385617	NM_006688.5(C1QL1):c.380T>G (p.Val127Gly)	C1QL1 (V127G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513354	NM_006688.5(C1QL1):c.344G>A (p.Gly115Asp)	C1QL1 (G115D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536931	NM_006688.5(C1QL1):c.338C>T (p.Ala113Val)	C1QL1 (A113V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135719	NM_006688.5(C1QL1):c.326G>A (p.Gly109Glu)	C1QL1 (G109E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135718	NM_006688.5(C1QL1):c.316G>C (p.Gly106Arg)	C1QL1 (G106R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384176	NM_006688.5(C1QL1):c.256G>T (p.Asp86Tyr)	C1QL1 (D86Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618840	NM_006688.5(C1QL1):c.226G>A (p.Gly76Ser)	C1QL1 (G76S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527172	NM_006688.5(C1QL1):c.196C>G (p.Gln66Glu)	C1QL1 (Q66E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135717	NM_006688.5(C1QL1):c.179C>G (p.Pro60Arg)	C1QL1 (P60R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462239	NM_006688.5(C1QL1):c.124G>A (p.Ala42Thr)	C1QL1 (A42T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135720	NM_006688.5(C1QL1):c.53C>T (p.Pro18Leu)	C1QL1 (P18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 442257	GRCh37/hg19 17q21.31(chr17:42649083-43659985)x3	ACBD4, ADAM11 +20 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 24