"Ambry Genetics"[submitter] AND "BRIX1"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3261841	NM_018321.4(BRIX1):c.14A>G (p.Lys5Arg)	BRIX1, TTC23L (K5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386170	NM_018321.4(BRIX1):c.32G>A (p.Gly11Asp)	BRIX1, TTC23L (G11D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378143	NM_018321.4(BRIX1):c.79G>A (p.Glu27Lys)	BRIX1, TTC23L (E27K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2313450	NM_018321.4(BRIX1):c.107C>A (p.Ala36Glu)	BRIX1, TTC23L (A36E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261842	NM_018321.4(BRIX1):c.221C>G (p.Thr74Arg)	BRIX1, TTC23L (T74R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2392932	NM_018321.4(BRIX1):c.221C>T (p.Thr74Ile)	BRIX1, TTC23L (T74I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3261844	NM_018321.4(BRIX1):c.278A>C (p.Lys93Thr)	BRIX1, TTC23L (K93T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2487499	NM_018321.4(BRIX1):c.283G>T (p.Asp95Tyr)	BRIX1, TTC23L (D95Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3261837	NM_018321.4(BRIX1):c.326T>C (p.Met109Thr)	BRIX1, TTC23L (M109T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2257645	NM_018321.4(BRIX1):c.359C>T (p.Ala120Val)	BRIX1, TTC23L (A120V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2206599	NM_018321.4(BRIX1):c.479A>G (p.Lys160Arg)	BRIX1, LOC126807355 +1 more (K160R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135081	NM_018321.4(BRIX1):c.490C>A (p.Pro164Thr)	BRIX1, LOC126807355 +1 more (P164T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2484626	NM_018321.4(BRIX1):c.566T>G (p.Phe189Cys)	BRIX1, LOC126807355 +1 more (F189C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135082	NM_018321.4(BRIX1):c.598C>T (p.Pro200Ser)	BRIX1, LOC126807355 +1 more (P200S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3261840	NM_018321.4(BRIX1):c.604G>A (p.Val202Met)	BRIX1, LOC126807355 +1 more (V202M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135083	NM_018321.4(BRIX1):c.611A>G (p.His204Arg)	BRIX1, LOC126807355 +1 more (H204R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3261838	NM_018321.4(BRIX1):c.622T>C (p.Phe208Leu)	BRIX1, LOC126807355 +1 more (F208L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2327503	NM_018321.4(BRIX1):c.634G>A (p.Asp212Asn)	BRIX1, LOC126807355 +1 more (D212N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135084	NM_018321.4(BRIX1):c.637A>G (p.Asn213Asp)	BRIX1, LOC126807355 +1 more (N213D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3261843	NM_018321.4(BRIX1):c.652C>T (p.Arg218Trp)	BRIX1, LOC126807355 +1 more (R218W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135085	NM_018321.4(BRIX1):c.661C>G (p.Gln221Glu)	BRIX1, LOC126807355 +1 more (Q221E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2217600	NM_018321.4(BRIX1):c.746G>A (p.Gly249Glu)	BRIX1, TTC23L (G249E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2287085	NM_018321.4(BRIX1):c.809G>T (p.Arg270Ile)	BRIX1, TTC23L (R270I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135087	NM_018321.4(BRIX1):c.838A>G (p.Lys280Glu)	BRIX1, TTC23L (K280E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3135088	NM_018321.4(BRIX1):c.914A>G (p.Asp305Gly)	BRIX1, TTC23L (D305G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2226393	NM_018321.4(BRIX1):c.970G>C (p.Glu324Gln)	BRIX1, TTC23L (E324Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 26