BABAM2[gene] and "single gene"[properties] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259729	NM_199191.3(BABAM2):c.30A>G (p.Ile10Met)	BABAM2 (I10M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259719	NM_199191.3(BABAM2):c.89A>G (p.Asp30Gly)	BABAM2 (D30G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132749	NM_199191.3(BABAM2):c.113C>T (p.Thr38Ile)	BABAM2 (T38I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132750	NM_199191.3(BABAM2):c.148G>C (p.Gly50Arg)	BABAM2 (G50R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132751	NM_199191.3(BABAM2):c.178A>G (p.Ile60Val)	BABAM2 (I60V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610539	NM_199191.3(BABAM2):c.325A>G (p.Asn109Asp)	BABAM2 (N109D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132752	NM_199191.3(BABAM2):c.398G>A (p.Arg133Gln)	BABAM2 (R133Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132753	NM_199191.3(BABAM2):c.415A>T (p.Met139Leu)	BABAM2 (M139L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132754	NM_199191.3(BABAM2):c.469A>G (p.Ile157Val)	BABAM2 (I157V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132755	NM_199191.3(BABAM2):c.485A>G (p.Lys162Arg)	BABAM2 (K162R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132756	NM_199191.3(BABAM2):c.515G>A (p.Arg172His)	BABAM2 (R172H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 161855	NM_199191.3(BABAM2):c.626A>G (p.Asp209Gly)	BABAM2 (D209G)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 2521000	NM_199191.3(BABAM2):c.659A>G (p.Tyr220Cys)	BABAM2 (Y220C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132757	NM_199191.3(BABAM2):c.671G>A (p.Arg224Gln)	BABAM2 (R224Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468522	NM_199191.3(BABAM2):c.681T>G (p.His227Gln)	BABAM2 (H227Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259709	NM_199191.3(BABAM2):c.859G>T (p.Val287Leu)	BABAM2 (V287L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521636	NM_199191.3(BABAM2):c.859G>A (p.Val287Met)	BABAM2 (V287M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259739	NM_199191.3(BABAM2):c.870T>G (p.Asp290Glu)	BABAM2 (D290E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132758	NM_199191.3(BABAM2):c.988G>A (p.Val330Ile)	BABAM2 (V330I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548089	NM_199191.3(BABAM2):c.1043C>T (p.Pro348Leu)	BABAM2 (P348L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481934	NM_199191.3(BABAM2):c.1089-11144C>T	BABAM2 (P374L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2528032	NM_199191.3(BABAM2):c.1089-11081G>A	BABAM2 (R395K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 979975	GRCh37/hg19 2p23.2(chr2:28180918-28304630)x1	BABAM2	Copy number loss	not provided	GUncertain significance

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Items: 23