EMID1[gene] and "single gene"[properties] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275280	NM_133455.4(EMID1):c.116A>T (p.Tyr39Phe)	EMID1 (Y39F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088576	NM_133455.4(EMID1):c.127C>T (p.Arg43Cys)	EMID1 (R43C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494489	NM_133455.4(EMID1):c.149A>G (p.Gln50Arg)	EMID1 (Q50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290858	NM_133455.4(EMID1):c.158C>A (p.Thr53Asn)	EMID1 (T53N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088577	NM_133455.4(EMID1):c.164T>G (p.Leu55Arg)	EMID1 (L55R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088579	NM_133455.4(EMID1):c.206C>T (p.Pro69Leu)	EMID1 (P69L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088580	NM_133455.4(EMID1):c.355T>C (p.Ser119Pro)	EMID1 (S117P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599741	NM_133455.4(EMID1):c.356C>T (p.Ser119Leu)	EMID1 (S119L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088581	NM_133455.4(EMID1):c.401C>T (p.Ser134Leu)	EMID1 (S132L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088582	NM_133455.4(EMID1):c.404G>A (p.Gly135Asp)	EMID1 (G133D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374686	NM_133455.4(EMID1):c.470C>G (p.Thr157Ser)	EMID1 (T155S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513037	NM_133455.4(EMID1):c.496G>A (p.Val166Ile)	EMID1 (V166I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088583	NM_133455.4(EMID1):c.548C>G (p.Pro183Arg)	EMID1 (P181R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780636	NM_133455.4(EMID1):c.587-5C>G	EMID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2522626	NM_133455.4(EMID1):c.595G>A (p.Gly199Ser)	EMID1 (G197S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088584	NM_133455.4(EMID1):c.613G>A (p.Gly205Arg)	EMID1 (G205R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088585	NM_133455.4(EMID1):c.647G>A (p.Arg216Gln)	EMID1 (R214Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2479912	NM_133455.4(EMID1):c.680C>T (p.Pro227Leu)	EMID1 (P225L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488631	NM_133455.4(EMID1):c.728C>G (p.Pro243Arg)	EMID1 (P243R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353749	NM_133455.4(EMID1):c.867C>G (p.His289Gln)	EMID1 (H289Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592380	NM_133455.4(EMID1):c.884C>T (p.Thr295Ile)	EMID1 (T293I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373141	NM_133455.4(EMID1):c.895G>A (p.Gly299Ser)	EMID1 (G297S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088575	NM_133455.4(EMID1):c.1193T>C (p.Ile398Thr)	EMID1 (I396T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286339	NM_133455.4(EMID1):c.1226C>T (p.Ala409Val)	EMID1 (A409V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601200	NM_133455.4(EMID1):c.1316G>A (p.Arg439Gln)	EMID1 (R439Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275278	NM_133455.4(EMID1):c.1321G>A (p.Glu441Lys)	EMID1 (E439K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 26