HNRNPCL1[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2249234	NM_001013631.3(HNRNPCL1):c.787G>T (p.Gly263Trp)	HNRNPCL1 (G263W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 547869	NM_001013631.3(HNRNPCL1):c.764del (p.Asp255fs)	HNRNPCL1 (D255fs)	Deletion (frameshift variant)	Mayer-Rokitansky-Kuster-Hauser syndrome	GUncertain significance
Select item 3284553	NM_001013631.3(HNRNPCL1):c.747G>C (p.Glu249Asp)	HNRNPCL1 (E249D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2638264	NM_001013631.3(HNRNPCL1):c.708G>A (p.Val236=)	HNRNPCL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2594699	NM_001013631.3(HNRNPCL1):c.600C>G (p.Asn200Lys)	HNRNPCL1 (N200K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395755	NM_001013631.3(HNRNPCL1):c.590T>C (p.Leu197Pro)	HNRNPCL1 (L197P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335348	NM_001013631.3(HNRNPCL1):c.500G>C (p.Arg167Pro)	HNRNPCL1 (R167P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226907	NM_001013631.3(HNRNPCL1):c.500G>A (p.Arg167Gln)	HNRNPCL1 (R167Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353677	NM_001013631.3(HNRNPCL1):c.476G>A (p.Gly159Asp)	HNRNPCL1 (G159D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638265	NM_001013631.3(HNRNPCL1):c.442C>A (p.Leu148Ile)	HNRNPCL1 (L148I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2638266	NM_001013631.3(HNRNPCL1):c.441T>C (p.Arg147=)	HNRNPCL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638267	NM_001013631.3(HNRNPCL1):c.435T>C (p.Arg145=)	HNRNPCL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2334641	NM_001013631.3(HNRNPCL1):c.406A>C (p.Ile136Leu)	HNRNPCL1 (I136L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402106	NM_001013631.3(HNRNPCL1):c.391C>T (p.Pro131Ser)	HNRNPCL1 (P131S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337879	NM_001013631.3(HNRNPCL1):c.386G>A (p.Arg129His)	HNRNPCL1 (R129H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589394	NM_001013631.3(HNRNPCL1):c.353A>C (p.Asp118Ala)	HNRNPCL1 (D118A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488635	NM_001013631.3(HNRNPCL1):c.333G>T (p.Leu111Phe)	HNRNPCL1 (L111F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106392	NM_001013631.3(HNRNPCL1):c.203C>T (p.Ala68Val)	HNRNPCL1 (A68V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106391	NM_001013631.3(HNRNPCL1):c.103G>A (p.Ala35Thr)	HNRNPCL1 (A35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance