IGFL1[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 57097	GRCh38/hg38 19q13.32(chr19:45595873-46600026)x1	MEIOSIN, MIR330 +115 more	Copy number loss	See cases	GPathogenic
Select item 2521804	NM_198541.2(IGFL1):c.11G>A (p.Arg4Gln)	IGFL1, LOC126862915 (R4Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494802	NM_198541.2(IGFL1):c.37A>G (p.Ile13Val)	IGFL1, LOC126862915 (I13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108635	NM_198541.2(IGFL1):c.118C>T (p.His40Tyr)	IGFL1 (H40Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328991	NM_198541.2(IGFL1):c.140T>C (p.Phe47Ser)	IGFL1 (F47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243557	NM_198541.2(IGFL1):c.147C>G (p.Asp49Glu)	IGFL1 (D49E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597653	NM_198541.2(IGFL1):c.157C>T (p.His53Tyr)	IGFL1 (H53Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108636	NM_198541.2(IGFL1):c.178G>A (p.Val60Ile)	IGFL1 (V60I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285545	NM_198541.2(IGFL1):c.203C>T (p.Thr68Met)	IGFL1 (T68M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108637	NM_198541.2(IGFL1):c.240G>T (p.Gln80His)	IGFL1 (Q80H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108638	NM_198541.2(IGFL1):c.286G>A (p.Asp96Asn)	IGFL1 (D96N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2382706	NM_198541.2(IGFL1):c.295C>T (p.Arg99Trp)	IGFL1 (R99W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285544	NM_198541.2(IGFL1):c.296G>A (p.Arg99Gln)	IGFL1 (R99Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108639	NM_198541.2(IGFL1):c.309C>G (p.Asp103Glu)	IGFL1 (D103E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284776	NM_198541.2(IGFL1):c.316T>C (p.Cys106Arg)	IGFL1 (C106R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980766	GRCh37/hg19 19q13.32(chr19:46645877-46868805)x1	HIF3A, IGFL1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	OPA3, PPP1R37 +74 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 624549	GRCh37/hg19 19q13.32(chr19:46638760-46743231)x3	IGFL1, IGFL2	Copy number gain	not provided	GLikely benign
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 441540	GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1	AP2S1, ARHGAP35 +46 more	Copy number loss	See cases	GLikely pathogenic
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic

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Items: 26