Related gene-specific medical variations for Gene (Select 127254) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276357	NM_001002912.5(ERICH3):c.1666G>T (p.Asp556Tyr)	ERICH3, ERICH3-AS1 (D556Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276353	NM_001002912.5(ERICH3):c.1178C>T (p.Pro393Leu)	ERICH3, ERICH3-AS1 (P393L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090235	NM_001002912.5(ERICH3):c.833T>G (p.Ile278Ser)	ERICH3, ERICH3-AS1 (I278S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090234	NM_001002912.5(ERICH3):c.833T>C (p.Ile278Thr)	ERICH3, ERICH3-AS1 (I278T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090213	NM_001002912.5(ERICH3):c.2110C>T (p.Leu704Phe)	ERICH3, ERICH3-AS1 (L704F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090212	NM_001002912.5(ERICH3):c.2015G>A (p.Gly672Glu)	ERICH3, ERICH3-AS1 (G672E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3090210	NM_001002912.5(ERICH3):c.1909G>A (p.Glu637Lys)	ERICH3, ERICH3-AS1 (E637K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3090208	NM_001002912.5(ERICH3):c.1663C>T (p.Arg555Cys)	ERICH3, ERICH3-AS1 (R555C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090207	NM_001002912.5(ERICH3):c.1219C>T (p.Pro407Ser)	ERICH3, ERICH3-AS1 (P407S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090206	NM_001002912.5(ERICH3):c.1201A>C (p.Met401Leu)	ERICH3, ERICH3-AS1 (M401L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090205	NM_001002912.5(ERICH3):c.1111C>T (p.Arg371Trp)	ERICH3, ERICH3-AS1 (R371W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638882	NM_001002912.5(ERICH3):c.1220C>T (p.Pro407Leu)	ERICH3, ERICH3-AS1 (P407L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2638881	NM_001002912.5(ERICH3):c.1489+8A>G	ERICH3, ERICH3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2605672	NM_001002912.5(ERICH3):c.935A>C (p.Lys312Thr)	ERICH3, ERICH3-AS1 (K312T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495718	NM_001002912.5(ERICH3):c.1253C>T (p.Thr418Ile)	ERICH3, ERICH3-AS1 (T418I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481987	NM_001002912.5(ERICH3):c.1711G>A (p.Glu571Lys)	ERICH3, ERICH3-AS1 (E571K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480234	NM_001002912.5(ERICH3):c.1824C>A (p.Asp608Glu)	ERICH3, ERICH3-AS1 (D608E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2379151	NM_001002912.5(ERICH3):c.1639T>C (p.Ser547Pro)	ERICH3, ERICH3-AS1 (S547P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353843	NM_001002912.5(ERICH3):c.922C>T (p.Arg308Trp)	ERICH3, ERICH3-AS1 (R308W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341760	NM_001002912.5(ERICH3):c.1939C>G (p.Gln647Glu)	ERICH3, ERICH3-AS1 (Q647E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2326241	NM_001002912.5(ERICH3):c.1536A>C (p.Lys512Asn)	ERICH3, ERICH3-AS1 (K512N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310682	NM_001002912.5(ERICH3):c.2040T>G (p.Ile680Met)	ERICH3, ERICH3-AS1 (I680M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2303488	NM_001002912.5(ERICH3):c.1217A>C (p.Lys406Thr)	ERICH3, ERICH3-AS1 (K406T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235771	NM_001002912.5(ERICH3):c.1237A>G (p.Arg413Gly)	ERICH3, ERICH3-AS1 (R413G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213751	NM_001002912.5(ERICH3):c.1204G>C (p.Gly402Arg)	ERICH3, ERICH3-AS1 (G402R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Links from Gene

Items: 25