"Ambry Genetics"[submitter] AND "BLZF1"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2233972	NM_001320973.2(BLZF1):c.145A>C (p.Ser49Arg)	BLZF1 (S49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261148	NM_001320973.2(BLZF1):c.220A>T (p.Met74Leu)	BLZF1 (M74L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232117	NM_001320973.2(BLZF1):c.302C>T (p.Ser101Phe)	BLZF1 (S101F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134448	NM_001320973.2(BLZF1):c.451C>T (p.Leu151Phe)	BLZF1 (L151F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134449	NM_001320973.2(BLZF1):c.455G>T (p.Arg152Leu)	BLZF1 (R152L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330569	NM_001320973.2(BLZF1):c.522G>T (p.Gln174His)	BLZF1 (Q174H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536205	NM_001320973.2(BLZF1):c.535C>T (p.Arg179Cys)	BLZF1 (R179C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134450	NM_001320973.2(BLZF1):c.536G>A (p.Arg179His)	BLZF1 (R179H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232849	NM_001320973.2(BLZF1):c.556C>G (p.Gln186Glu)	BLZF1 (Q186E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236692	NM_001320973.2(BLZF1):c.571A>G (p.Asn191Asp)	BLZF1 (N191D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619520	NM_001320973.2(BLZF1):c.620G>A (p.Arg207His)	BLZF1 (R207H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494701	NM_001320973.2(BLZF1):c.712C>T (p.Arg238Cys)	BLZF1 (R238C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134451	NM_001320973.2(BLZF1):c.796A>G (p.Lys266Glu)	BLZF1 (K266E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274093	NM_001320973.2(BLZF1):c.854C>T (p.Pro285Leu)	BLZF1 (P285L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465514	NM_001320973.2(BLZF1):c.1043C>A (p.Thr348Asn)	BLZF1 (T348N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215075	NM_001320973.2(BLZF1):c.1172A>G (p.Asn391Ser)	BLZF1 (N391S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264130	NM_001300969.2(CCDC181):c.1474C>T (p.His492Tyr)	BLZF1, CCDC181 (H491Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372431	NM_001300969.2(CCDC181):c.1457G>A (p.Arg486His)	BLZF1, CCDC181 (R485H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513486	NM_001300969.2(CCDC181):c.1387C>T (p.Arg463Trp)	BLZF1, CCDC181 (R463W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544269	NM_001300969.2(CCDC181):c.1379G>T (p.Arg460Ile)	BLZF1, CCDC181 (R460I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 20