TFCP2L1[gene] and "single gene"[properties] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3325620	NM_014553.3(TFCP2L1):c.1408G>A (p.Gly470Ser)	TFCP2L1 (G470S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176483	NM_014553.3(TFCP2L1):c.1313C>T (p.Thr438Met)	TFCP2L1 (T438M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211069	NM_014553.3(TFCP2L1):c.1301G>A (p.Arg434Gln)	TFCP2L1 (R434Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303470	NM_014553.3(TFCP2L1):c.1207G>A (p.Ala403Thr)	TFCP2L1 (A403T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271825	NM_014553.3(TFCP2L1):c.1160A>G (p.Gln387Arg)	TFCP2L1 (Q387R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325622	NM_014553.3(TFCP2L1):c.1072C>G (p.Leu358Val)	TFCP2L1 (L358V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729302	NM_014553.3(TFCP2L1):c.1053T>G (p.Gly351=)	TFCP2L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2365957	NM_014553.3(TFCP2L1):c.959G>A (p.Arg320His)	TFCP2L1 (R320H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558402	NM_014553.3(TFCP2L1):c.956A>G (p.His319Arg)	TFCP2L1 (H319R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176489	NM_014553.3(TFCP2L1):c.936G>C (p.Gln312His)	TFCP2L1 (Q312H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325623	NM_014553.3(TFCP2L1):c.901G>T (p.Gly301Cys)	TFCP2L1 (G301C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336555	NM_014553.3(TFCP2L1):c.836C>G (p.Pro279Arg)	TFCP2L1 (P279R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176488	NM_014553.3(TFCP2L1):c.787G>A (p.Val263Met)	TFCP2L1 (V263M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780023	NM_014553.3(TFCP2L1):c.768+8G>A	TFCP2L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3176487	NM_014553.3(TFCP2L1):c.740C>T (p.Pro247Leu)	TFCP2L1 (P247L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325619	NM_014553.3(TFCP2L1):c.701T>C (p.Met234Thr)	TFCP2L1 (M234T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408610	NM_014553.3(TFCP2L1):c.694G>C (p.Glu232Gln)	TFCP2L1 (E232Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598074	NM_014553.3(TFCP2L1):c.691C>T (p.Arg231Trp)	TFCP2L1 (R231W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1344815	NM_014553.3(TFCP2L1):c.689del (p.Asp230fs)	TFCP2L1 (D230fs)	Deletion (frameshift variant)	Chronic kidney disease	GLikely pathogenic
Select item 2277410	NM_014553.3(TFCP2L1):c.505G>A (p.Val169Ile)	TFCP2L1 (V169I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321590	NM_014553.3(TFCP2L1):c.488C>T (p.Ala163Val)	TFCP2L1 (A163V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212674	NM_014553.3(TFCP2L1):c.247C>T (p.Arg83Trp)	TFCP2L1 (R83W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176486	NM_014553.3(TFCP2L1):c.235C>A (p.Leu79Ile)	TFCP2L1 (L79I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717473	NM_014553.3(TFCP2L1):c.231C>T (p.Ile77=)	TFCP2L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2260206	NM_014553.3(TFCP2L1):c.192G>C (p.Glu64Asp)	TFCP2L1 (E64D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176484	NM_014553.3(TFCP2L1):c.175G>A (p.Val59Met)	TFCP2L1 (V59M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495630	NM_014553.3(TFCP2L1):c.160G>C (p.Ala54Pro)	TFCP2L1 (A54P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218304	NM_014553.3(TFCP2L1):c.140T>C (p.Leu47Pro)	TFCP2L1 (L47P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303426	NM_014553.3(TFCP2L1):c.136C>T (p.Pro46Ser)	TFCP2L1 (P46S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325618	NM_014553.3(TFCP2L1):c.128G>A (p.Arg43His)	TFCP2L1 (R43H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714939	NM_014553.3(TFCP2L1):c.127C>T (p.Arg43Cys)	TFCP2L1 (R43C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2227389	NM_014553.3(TFCP2L1):c.125C>A (p.Ala42Asp)	TFCP2L1 (A42D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337536	NM_014553.3(TFCP2L1):c.110C>A (p.Ser37Tyr)	TFCP2L1 (S37Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 33