"ERC1-related condition"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3033364	NM_178040.4(ERC1):c.48G>C (p.Gln16His)	ERC1 (Q16H)	Single nucleotide variant (missense variant +1 more)	ERC1-related condition	GBenign
Select item 3037380	NM_178040.4(ERC1):c.148A>G (p.Ser50Gly)	ERC1 (S50G)	Single nucleotide variant (missense variant +1 more)	ERC1-related condition	GBenign
Select item 1335091	NM_178040.4(ERC1):c.297T>G (p.Pro99=)	ERC1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3038730	NM_178040.4(ERC1):c.300C>T (p.Tyr100=)	ERC1	Single nucleotide variant (synonymous variant +1 more)	ERC1-related condition	GLikely benign
Select item 3054082	NM_178040.4(ERC1):c.308G>C (p.Arg103Pro)	ERC1 (R103P)	Single nucleotide variant (missense variant +1 more)	ERC1-related condition	GLikely benign
Select item 3047384	NM_178040.4(ERC1):c.1026C>T (p.His342=)	ERC1	Single nucleotide variant (synonymous variant +1 more)	ERC1-related condition	GLikely benign
Select item 776684	NM_178040.4(ERC1):c.1179T>A (p.Ser393=)	ERC1	Single nucleotide variant (synonymous variant +1 more)	ERC1-related condition +1 more	GBenign
Select item 3043480	NM_178040.4(ERC1):c.1372A>G (p.Lys458Glu)	ERC1 (K458E)	Single nucleotide variant (missense variant +1 more)	ERC1-related condition	GBenign
Select item 3051178	NM_178040.4(ERC1):c.1527C>T (p.Ser509=)	ERC1, LOC126861413	Single nucleotide variant (synonymous variant +1 more)	ERC1-related condition	GBenign
Select item 3053812	NM_178040.4(ERC1):c.1738-6A>C	ERC1	Single nucleotide variant (intron variant)	ERC1-related condition	GLikely benign
Select item 3053450	NM_178040.4(ERC1):c.1885A>G (p.Ile629Val)	ERC1 (I601V +1 more)	Single nucleotide variant (missense variant +1 more)	ERC1-related condition	GBenign
Select item 2311343	NM_178040.4(ERC1):c.2122G>C (p.Glu708Gln)	ERC1 (E680Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3037882	NM_178040.4(ERC1):c.2158-4G>A	ERC1	Single nucleotide variant (intron variant)	ERC1-related condition	GBenign
Select item 3045575	NM_178040.4(ERC1):c.2207G>A (p.Arg736Gln)	ERC1 (R708Q +1 more)	Single nucleotide variant (missense variant +1 more)	ERC1-related condition	GLikely benign
Select item 3057218	NM_178040.4(ERC1):c.2820C>T (p.Ala940=)	ERC1	Single nucleotide variant (synonymous variant +1 more)	ERC1-related condition	GBenign
Select item 3055629	NM_178040.4(ERC1):c.3094A>G (p.Thr1032Ala)	ERC1 (T1004A +1 more)	Single nucleotide variant (missense variant +1 more)	ERC1-related condition	GBenign
Select item 3060038	NM_178040.4(ERC1):c.3214-9246C>T	ERC1 (P1073L)	Single nucleotide variant (missense variant +1 more)	ERC1-related condition	GBenign
Select item 3037448	NM_178040.4(ERC1):c.3214-9201G>T	ERC1	Single nucleotide variant (3 prime UTR variant +1 more)	ERC1-related condition	GLikely benign