Related gene-specific medical variations for Gene (Select 23085) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3509784	NM_178040.4(ERC1):c.1565C>G (p.Thr522Ser)	ERC1, LOC126861413 (T494S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063234	GRCh37/hg19 12p13.33(chr12:1086096-1588778)x1	ERC1	Copy number loss	not specified	GUncertain significance
Select item 3051178	NM_178040.4(ERC1):c.1527C>T (p.Ser509=)	ERC1, LOC126861413	Single nucleotide variant (synonymous variant +1 more)	ERC1-related disorder	GBenign
Select item 2563438	NM_178040.4(ERC1):c.1542G>T (p.Glu514Asp)	ERC1, LOC126861413 (E514D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 979953	GRCh37/hg19 12p13.33(chr12:1111811-1622789)x3	ERC1	Copy number gain	not provided	GLikely benign
Select item 872304	GRCh37/hg19 12p13.33(chr12:1136914-1599259)x1	ERC1	Copy number loss	not provided	GPathogenic
Select item 815500	GRCh37/hg19 12p13.33(chr12:1173101-1510756)x3	ERC1	Copy number gain	not provided	GUncertain significance
Select item 804463	NM_178040.4(ERC1):c.3037dup (p.Leu1013fs)	ERC1 (L1013fs +1 more)	Duplication (frameshift variant +1 more)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GLikely pathogenic
Select item 688453	GRCh37/hg19 12p13.33(chr12:1168971-1268132)x1	ERC1	Copy number loss	not provided	GUncertain significance
Select item 684913	GRCh37/hg19 12p13.33(chr12:1253888-1350333)x1	ERC1	Copy number loss	not provided	GUncertain significance
Select item 635768	GRCh37/hg19 12p13.33(chr12:1345909-1476210)x1	ERC1	Copy number loss	Delayed speech and language development	GLikely pathogenic
Select item 563917	GRCh37/hg19 12p13.33(chr12:1131052-1355047)x3	ERC1	Copy number gain	not provided	GUncertain significance
Select item 394878	GRCh37/hg19 12p13.33(chr12:1122611-1577322)x3	ERC1	Copy number gain	See cases	GLikely benign