ClinVar for Gene (Select 7844) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314663	NM_005667.4(RNF103):c.1165T>A (p.Tyr389Asn)	CHMP3-AS1, RNF103 +1 more (Y385N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314662	NM_005667.4(RNF103):c.1338A>T (p.Glu446Asp)	CHMP3-AS1, RNF103 +1 more (E442D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314661	NM_005667.4(RNF103):c.515C>T (p.Thr172Ile)	CHMP3-AS1, RNF103 +1 more (T172I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314660	NM_005667.4(RNF103):c.981T>G (p.Phe327Leu)	CHMP3-AS1, RNF103 +1 more (F323L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314659	NM_005667.4(RNF103):c.821A>G (p.Lys274Arg)	CHMP3-AS1, RNF103 +1 more (K270R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314658	NM_005667.4(RNF103):c.1311G>T (p.Lys437Asn)	CHMP3-AS1, RNF103 +1 more (K433N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154918	NM_005667.4(RNF103):c.819C>G (p.Asn273Lys)	CHMP3-AS1, RNF103 +1 more (N273K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154917	NM_005667.4(RNF103):c.712T>C (p.Tyr238His)	CHMP3-AS1, RNF103 +1 more (Y238H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154916	NM_005667.4(RNF103):c.464A>G (p.Asn155Ser)	CHMP3-AS1, RNF103 +1 more (N151S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154914	NM_005667.4(RNF103):c.1584G>A (p.Met528Ile)	CHMP3-AS1, RNF103 +1 more (M528I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154912	NM_005667.4(RNF103):c.108G>T (p.Gln36His)	RNF103, RNF103-CHMP3 (Q36H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685855	GRCh37/hg19 2p11.2(chr2:86766962-86989047)x3	CHMP3, RMND5A +2 more	Copy number gain	not provided	GUncertain significance
Select item 2619263	NM_005667.4(RNF103):c.1724C>T (p.Ala575Val)	CHMP3-AS1, RNF103 +1 more (A575V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618482	NM_005667.4(RNF103):c.578G>A (p.Ser193Asn)	CHMP3-AS1, RNF103 +1 more (S189N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607256	NM_005667.4(RNF103):c.94A>C (p.Ile32Leu)	RNF103, RNF103-CHMP3 (I28L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602226	NM_005667.4(RNF103):c.810T>A (p.Asn270Lys)	CHMP3-AS1, RNF103 +1 more (N266K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569105	NM_005667.4(RNF103):c.198G>C (p.Lys66Asn)	LOC129934258, RNF103 +1 more (K62N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557576	NM_005667.4(RNF103):c.416A>G (p.Lys139Arg)	RNF103, RNF103-CHMP3 +1 more (K135R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551548	NM_005667.4(RNF103):c.1814A>G (p.Glu605Gly)	CHMP3-AS1, RNF103 +1 more (E601G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518370	NM_005667.4(RNF103):c.584G>A (p.Arg195His)	CHMP3-AS1, RNF103 +1 more (R195H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455594	NM_005667.4(RNF103):c.1967G>A (p.Arg656Gln)	CHMP3-AS1, RNF103 +1 more (R656Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406531	NM_005667.4(RNF103):c.397G>C (p.Gly133Arg)	CHMP3-AS1, RNF103 +1 more (G129R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393809	NM_005667.4(RNF103):c.280G>A (p.Glu94Lys)	RNF103, RNF103-CHMP3 (E94K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368437	NM_005667.4(RNF103):c.684T>A (p.Asn228Lys)	CHMP3-AS1, RNF103 +1 more (N228K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360386	NM_005667.4(RNF103):c.1616C>G (p.Ser539Trp)	CHMP3-AS1, RNF103 +1 more (S535W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359513	NM_005667.4(RNF103):c.1343A>G (p.Asn448Ser)	CHMP3-AS1, RNF103 +1 more (N444S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358585	NM_005667.4(RNF103):c.692A>G (p.Asp231Gly)	CHMP3-AS1, RNF103 +1 more (D231G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333712	NM_005667.4(RNF103):c.1306A>G (p.Lys436Glu)	CHMP3-AS1, RNF103 +1 more (K432E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328907	NM_005667.4(RNF103):c.548C>T (p.Ser183Leu)	CHMP3-AS1, RNF103 +1 more (S179L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291445	NM_005667.4(RNF103):c.138G>C (p.Lys46Asn)	RNF103, RNF103-CHMP3 (K42N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278538	NM_005667.4(RNF103):c.1480G>A (p.Ala494Thr)	CHMP3-AS1, RNF103 +1 more (A490T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266206	NM_005667.4(RNF103):c.1547G>A (p.Arg516Gln)	CHMP3-AS1, RNF103 +1 more (R516Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262577	NM_005667.4(RNF103):c.94A>G (p.Ile32Val)	RNF103, RNF103-CHMP3 (I28V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257118	NM_005667.4(RNF103):c.1589A>C (p.Glu530Ala)	CHMP3-AS1, RNF103 +1 more (E530A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252550	NM_005667.4(RNF103):c.1815A>C (p.Glu605Asp)	CHMP3-AS1, RNF103 +1 more (E601D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252496	NM_005667.4(RNF103):c.761G>C (p.Ser254Thr)	CHMP3-AS1, RNF103 +1 more (S254T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234483	NM_005667.4(RNF103):c.521T>C (p.Ile174Thr)	CHMP3-AS1, RNF103 +1 more (I174T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220503	NM_005667.4(RNF103):c.133T>C (p.Phe45Leu)	RNF103, RNF103-CHMP3 (F41L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2203780	NM_005667.4(RNF103):c.1319G>A (p.Arg440His)	CHMP3-AS1, RNF103 +1 more (R440H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 1526840	GRCh37/hg19 2p12-11.2(chr2:82486900-87322042)	ATOH8, C2orf68 +35 more	Copy number loss	not specified	GPathogenic
Select item 1410487	NC_000002.11:g.(?_86067267)_(87017948_?)del	IMMT, PTCD3 +10 more	Deletion	Susceptibility to respiratory infections associated with CD8alpha chain mutation	GUncertain significance
Select item 685879	GRCh37/hg19 2p12-11.2(chr2:77907114-87330965)x1	ATOH8, C2orf68 +41 more	Copy number loss	not provided	GPathogenic
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	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 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 60182	GRCh38/hg38 2p11.2(chr2:86395172-86859284)x1	CD8A, CD8B +28 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 53