Related gene-specific medical variations for Gene (Select 4179) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247941	NC_000001.10:g.(?_207934574)_(207934811_?)dup	CD46	Duplication	not provided	GUncertain significance
Select item 3068272	NM_172351.3(CD46):c.559G>C (p.Val187Leu)	CD46 (V187L)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GLikely pathogenic
Select item 3044739	NM_172351.3(CD46):c.15C>A (p.Gly5=)	CD46, LOC129932405	Single nucleotide variant (synonymous variant)	CD46-related disorder	GLikely benign
Select item 3010146	NM_172351.3(CD46):c.70A>C (p.Met24Leu)	CD46, LOC129932405 (M24L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2837973	NM_172351.3(CD46):c.97+5G>T	CD46, LOC129932405	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2798920	NM_172351.3(CD46):c.89_91del (p.Ser30del)	CD46, LOC129932405 (S30del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2785845	NM_172351.3(CD46):c.96C>T (p.Ser32=)	CD46, LOC129932405	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2600764	NM_172351.3(CD46):c.10C>T (p.Pro4Ser)	CD46, LOC129932405 (P4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550663	NM_172351.3(CD46):c.58C>T (p.Leu20Phe)	CD46, LOC129932405 (L20F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542840	NM_172351.3(CD46):c.68C>G (p.Ala23Gly)	CD46, LOC129932405 (A23G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2129654	NM_172351.3(CD46):c.97G>T (p.Asp33Tyr)	CD46, LOC129932405 (D33Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091812	NM_172351.3(CD46):c.59T>C (p.Leu20Pro)	CD46, LOC129932405 (L20P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2090466	NM_172351.3(CD46):c.11C>T (p.Pro4Leu)	LOC129932405, CD46 (P4L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962729	NM_172351.3(CD46):c.35C>T (p.Pro12Leu)	CD46, LOC129932405 (P12L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953339	NM_172351.3(CD46):c.52G>A (p.Gly18Arg)	CD46, LOC129932405 (G18R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1716916	NM_172351.3(CD46):c.57G>T (p.Leu19Phe)	CD46, LOC129932405 (L19F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712459	NM_172351.3(CD46):c.83del (p.Leu28fs)	CD46, LOC129932405 (L28fs)	Deletion (frameshift variant)	Atypical hemolytic-uremic syndrome	GLikely pathogenic
Select item 1617725	NM_172351.3(CD46):c.30C>G (p.Pro10=)	CD46, LOC129932405	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1503301	NM_172351.3(CD46):c.40T>C (p.Trp14Arg)	CD46, LOC129932405 (W14R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1459428	NM_172351.3(CD46):c.12C>T (p.Pro4=)	LOC129932405, CD46	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1434982	NM_172351.3(CD46):c.89C>G (p.Ser30Cys)	CD46, LOC129932405 (S30C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1415199	NM_172351.3(CD46):c.17G>T (p.Arg6Leu)	CD46, LOC129932405 (R6L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380033	NM_172351.3(CD46):c.71T>C (p.Met24Thr)	LOC129932405, CD46 (M24T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1351454	NM_172351.3(CD46):c.65C>A (p.Ala22Glu)	CD46, LOC129932405 (A22E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1185016	NM_172351.3(CD46):c.72G>A (p.Met24Ile)	CD46, LOC129932405 (M24I)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly +1 more	GUncertain significance
Select item 1163185	NM_172351.3(CD46):c.97G>C (p.Asp33His)	CD46, LOC129932405 (D33H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 988105	NM_172351.3(CD46):c.70A>G (p.Met24Val)	CD46, LOC129932405 (M24V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 875708	NM_172351.3(CD46):c.38C>T (p.Ser13Phe)	CD46, LOC129932405 (S13F)	Single nucleotide variant (missense variant)	CD46-related disorder +3 more	GBenign
Select item 875707	NM_172351.3(CD46):c.-10C>T	CD46, LOC129932405	Single nucleotide variant (5 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GUncertain significance
Select item 875706	NM_172351.3(CD46):c.-11C>A	CD46, LOC129932405	Single nucleotide variant (5 prime UTR variant)	Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly	GLikely benign
Select item 544824	NM_172351.3(CD46):c.402T>G (p.Ile134Met)	CD46 (I134M)	Single nucleotide variant (missense variant)	Familial hemolytic anemia	GUncertain significance
Select item 294966	NM_172351.3(CD46):c.-6C>T	LOC129932405, CD46	Single nucleotide variant (5 prime UTR variant)	Atypical hemolytic-uremic syndrome	GUncertain significance

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Links from Gene

Items: 32