30325[HGNC] - ClinVar

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Items: 35

	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 2229597	NM_022128.3(RBKS):c.924G>C (p.Gln308His)	RBKS (Q308H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152122	NM_022128.3(RBKS):c.845A>C (p.Tyr282Ser)	RBKS (Y215S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245468	NM_022128.3(RBKS):c.821C>T (p.Ala274Val)	RBKS (A274V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388911	NM_022128.3(RBKS):c.640G>A (p.Ala214Thr)	RBKS (A147T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538308	NM_022128.3(RBKS):c.530A>G (p.Asn177Ser)	RBKS (N110S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464725	NM_022128.3(RBKS):c.502C>T (p.Arg168Cys)	RBKS (R101C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326620	NM_022128.3(RBKS):c.412G>T (p.Ala138Ser)	RBKS (A71S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542296	NM_022128.3(RBKS):c.341A>G (p.Asn114Ser)	RBKS (N114S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369460	NM_022128.3(RBKS):c.331A>G (p.Ile111Val)	RBKS (I111V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605758	NM_022128.3(RBKS):c.325G>T (p.Ala109Ser)	RBKS (A109S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152121	NM_022128.3(RBKS):c.283A>C (p.Thr95Pro)	RBKS (T28P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488320	NM_022128.3(RBKS):c.251A>C (p.Tyr84Ser)	RBKS (Y84S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524703	NM_022128.3(RBKS):c.242G>A (p.Gly81Asp)	RBKS (G14D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509639	NM_022128.3(RBKS):c.101G>A (p.Arg34His)	RBKS (R34H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2237937	NM_022128.3(RBKS):c.100C>T (p.Arg34Cys)	RBKS (R34C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3257594	NM_022128.3(RBKS):c.90-1G>C	RBKS	Single nucleotide variant (splice acceptor variant)	not provided	GLikely benign
Select item 3313138	NM_022128.3(RBKS):c.13G>A (p.Gly5Arg)	BABAM2, BABAM2-AS1 +1 more (G5R)	Single nucleotide variant (non-coding transcript variant +3 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 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	DNAJC27, DNAJC5G +131 more	Copy number gain	not provided	GLikely pathogenic
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 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: 35