1106[HGNC] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +1047 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	C2orf48, C2orf50 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
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 148463	GRCh38/hg38 2p23.2(chr2:27956289-28198897)x1	BABAM2, LOC100505736 +3 more	Copy number loss	See cases	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 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 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 2650777	NM_199191.3(BABAM2):c.1088+11589A>C	BABAM2, LOC100505716 +1 more	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
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 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062642	GRCh37/hg19 2p23.2-23.1(chr2:28244046-30256324)x3	ALK, BABAM2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 2427541	NC_000002.11:g.(?_24443763)_(29022169_?)dup	ZNF513, SLC5A6 +65 more	Duplication	not provided	GUncertain significance
Select item 2425074	NC_000002.11:g.(?_24443763)_(30143525_?)dup	SLC4A1AP, OTOF +72 more	Duplication	not provided	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	EML4, FAM98A +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 979975	GRCh37/hg19 2p23.2(chr2:28180918-28304630)x1	BABAM2	Copy number loss	not provided	GUncertain significance
Select item 814226	GRCh37/hg19 2p23.2(chr2:28387514-29616031)x3	CLIP4, FOSL2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442481	GRCh37/hg19 2p23.2-23.1(chr2:28306106-30052309)x3	ALK, BABAM2 +9 more	Copy number gain	See cases	GUncertain significance
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 394466	GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3	ALK, ARHGEF33 +70 more	Copy number gain	See cases	GPathogenic

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Items: 42