ClinVar for Gene (Select 5719) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3038876	NM_002817.4(PSMD13):c.-20C>T	LOC130005040, PSMD13	Single nucleotide variant (5 prime UTR variant)	PSMD13-related condition	GLikely benign
Select item 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	ANO9, AP2A2 +89 more	Copy number gain	not provided	GPathogenic
Select item 2610830	NM_002817.4(PSMD13):c.507C>T (p.His169=)	PSMD13	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2522764	NM_002817.4(PSMD13):c.376G>A (p.Gly126Arg)	PSMD13 (G126R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	C11orf42, MRGPRG +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2490710	NM_002817.4(PSMD13):c.302G>A (p.Arg101His)	PSMD13 (R101H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487916	NM_002817.4(PSMD13):c.461G>A (p.Arg154His)	PSMD13 (R154H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363742	NM_002817.4(PSMD13):c.465C>G (p.Phe155Leu)	PSMD13 (F155L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347529	NM_002817.4(PSMD13):c.532C>T (p.Arg178Trp)	PSMD13 (R178W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308923	NM_002817.4(PSMD13):c.1055G>A (p.Arg352His)	PSMD13 (R352H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293812	NM_002817.4(PSMD13):c.1013C>T (p.Pro338Leu)	PSMD13 (P340L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253985	NM_002817.4(PSMD13):c.271A>C (p.Asn91His)	PSMD13 (N93H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	OR10A6, RRM1 +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ABCC8, ADM +308 more	Copy number gain	See cases	GPathogenic
Select item 1421885	NC_000011.9:g.(?_216698)_(720766_?)dup	ANO9, B4GALNT4 +27 more	Duplication	Immunodeficiency 39	GUncertain significance
Select item 1410009	NC_000011.9:g.(?_216698)_(299504_?)dup	PSMD13, IFITM5 +3 more	Duplication	not provided	GUncertain significance
Select item 1339886	GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	ANO9, AP2A2 +137 more	Copy number gain	not provided	Gnot provided
Select item 983191	GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3	ANO9, AP2A2 +109 more	Copy number gain	See cases	GPathogenic
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	IFITM3, OR52D1 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 980416	GRCh37/hg19 11p15.5(chr11:230615-1150353)x3	ANO9, AP2A2 +43 more	Copy number gain	not provided	GUncertain significance
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	ABCC8, ADM +343 more	Copy number gain	not provided	GPathogenic
Select item 688993	GRCh37/hg19 11p15.5(chr11:210898-461373)x3	ANO9, B4GALNT4 +12 more	Copy number gain	not provided	GUncertain significance
Select item 685591	GRCh37/hg19 11p15.5(chr11:230615-253390)x1	PSMD13, SIRT3	Copy number loss	not provided	GUncertain significance
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 624552	GRCh37/hg19 11p15.5(chr11:210300-487062)x3	ANO9, B4GALNT4 +12 more	Copy number gain	not provided	GUncertain significance
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	OR2AG2, OR2D2 +222 more	Copy number gain	not provided	GPathogenic
Select item 443493	GRCh37/hg19 11p15.5(chr11:230615-253390)x1	PSMD13, SIRT3	Copy number loss	See cases	GUncertain significance
Select item 443411	GRCh37/hg19 11p15.5(chr11:230615-378405)x1	B4GALNT4, IFITM1 +7 more	Copy number loss	See cases	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ABCC8, ABTB2 +364 more	Copy number gain	See cases	GPathogenic
Select item 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	ART1, ART5 +132 more	Copy number gain	See cases	GPathogenic
Select item 393875	GRCh37/hg19 11p15.5(chr11:193842-475940)x3	ANO9, B4GALNT4 +15 more	Copy number gain	See cases	GLikely benign
Select item 253707	GRCh37/hg19 11p15.5(chr11:193142-299384)x3	RIC8A, PGGHG +7 more	Copy number gain	See cases	GUncertain significance
Select item 161085	GRCh38/hg38 11p15.5(chr11:196966-244236)x1	BET1L, CIMAP1A +8 more	Copy number loss	See cases	GUncertain significance
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	LOC130005123, LOC130005124 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC106799843, LOC106865369 +388 more	Copy number gain	See cases	GPathogenic
Select item 151347	GRCh38/hg38 11p15.5(chr11:200222-237805)x3	BET1L, CIMAP1A +8 more	Copy number gain	See cases	GBenign
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 144144	GRCh38/hg38 11p15.5(chr11:196966-244236)x3	BET1L, CIMAP1A +8 more	Copy number gain	See cases	GBenign
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 57951	GRCh38/hg38 11p15.5(chr11:196966-251588)x3	BET1L, CIMAP1A +8 more	Copy number gain	See cases	GUncertain significance
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	LOC106783508, LOC106799843 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	ANO9, AP2A2 +332 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 47