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

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2304258	NM_003192.3(TBCC):c.956A>C (p.Asp319Ala)	TBCC (D319A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536192	NM_003192.3(TBCC):c.914G>A (p.Ser305Asn)	TBCC (S305N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557349	NM_003192.3(TBCC):c.903G>C (p.Lys301Asn)	TBCC (K301N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174761	NM_003192.3(TBCC):c.769G>A (p.Ala257Thr)	TBCC (A257T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387896	NM_003192.3(TBCC):c.644C>T (p.Thr215Met)	TBCC (T215M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174760	NM_003192.3(TBCC):c.638A>G (p.Asn213Ser)	TBCC (N213S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324761	NM_003192.3(TBCC):c.568G>A (p.Glu190Lys)	TBCC (E190K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324762	NM_003192.3(TBCC):c.566T>C (p.Leu189Pro)	TBCC (L189P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286039	NM_003192.3(TBCC):c.554G>A (p.Gly185Asp)	TBCC (G185D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174759	NM_003192.3(TBCC):c.533T>C (p.Leu178Pro)	TBCC (L178P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623003	NM_003192.3(TBCC):c.515A>G (p.Lys172Arg)	TBCC (K172R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276398	NM_003192.3(TBCC):c.479C>T (p.Pro160Leu)	LOC129996470, TBCC (P160L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174758	NM_003192.3(TBCC):c.478C>T (p.Pro160Ser)	LOC129996470, TBCC (P160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606456	NM_003192.3(TBCC):c.448A>G (p.Thr150Ala)	LOC129996470, TBCC (T150A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475252	NM_003192.3(TBCC):c.406C>G (p.Arg136Gly)	LOC129996470, TBCC (R136G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174756	NM_003192.3(TBCC):c.398C>T (p.Pro133Leu)	LOC129996470, TBCC (P133L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324763	NM_003192.3(TBCC):c.386G>C (p.Arg129Pro)	LOC129996470, TBCC (R129P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174754	NM_003192.3(TBCC):c.325G>T (p.Asp109Tyr)	LOC129996470, TBCC (D109Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495135	NM_003192.3(TBCC):c.316G>C (p.Ala106Pro)	TBCC (A106P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396999	NM_003192.3(TBCC):c.197G>A (p.Arg66Gln)	LOC129996471, TBCC (R66Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605188	NM_003192.3(TBCC):c.175T>G (p.Phe59Val)	TBCC (F59V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326152	NM_003192.3(TBCC):c.172C>T (p.His58Tyr)	TBCC (H58Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555299	NM_003192.3(TBCC):c.161A>C (p.Lys54Thr)	TBCC (K54T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174752	NM_003192.3(TBCC):c.147C>A (p.Asn49Lys)	LOC129996472, TBCC (N49K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174751	NM_003192.3(TBCC):c.118G>T (p.Val40Phe)	LOC129996472, TBCC (V40F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324764	NM_003192.3(TBCC):c.46A>G (p.Met16Val)	LOC129996472, TBCC (M16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174757	NM_003192.3(TBCC):c.44A>G (p.Asp15Gly)	LOC129996472, TBCC (D15G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174753	NM_003192.3(TBCC):c.25G>C (p.Ala9Pro)	LOC129996472, TBCC (A9P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238946	NM_003192.3(TBCC):c.17G>C (p.Cys6Ser)	LOC129996472, TBCC (C6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 29