MYADM[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 599192	NC_000019.10:g.53536530_53981185dup	MIR525, MIR526A1 +61 more	Duplication	Silver Russell Syndrome-related disorder	GUncertain significance
Select item 58804	GRCh38/hg38 19q13.42(chr19:53553042-53899466)x3	DPRX, LOC121627888 +58 more	Copy number gain	See cases	GUncertain significance
Select item 2525953	NM_138373.5(MYADM):c.19C>T (p.Arg7Cys)	MYADM (R7C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398642	NM_138373.5(MYADM):c.118C>T (p.Arg40Cys)	MYADM (R40C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467218	NM_138373.5(MYADM):c.246C>G (p.Ile82Met)	MYADM (I82M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324166	NM_138373.5(MYADM):c.253G>A (p.Val85Met)	MYADM (V85M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213244	NM_138373.5(MYADM):c.295C>T (p.Arg99Cys)	MYADM (R99C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152843	NM_138373.5(MYADM):c.303C>G (p.Phe101Leu)	MYADM (F101L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152844	NM_138373.5(MYADM):c.389A>G (p.His130Arg)	MYADM (H130R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384044	NM_138373.5(MYADM):c.394C>T (p.Arg132Cys)	MYADM (R132C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537630	NM_138373.5(MYADM):c.409G>A (p.Ala137Thr)	MYADM (A137T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550495	NM_138373.5(MYADM):c.440C>T (p.Ala147Val)	MYADM (A147V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234599	NM_138373.5(MYADM):c.553T>C (p.Cys185Arg)	MYADM (C185R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395914	NM_138373.5(MYADM):c.583A>G (p.Asn195Asp)	MYADM (N195D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152856	NM_138373.5(MYADM):c.640T>C (p.Phe214Leu)	MYADM (F214L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297534	NM_138373.5(MYADM):c.642C>A (p.Phe214Leu)	MYADM (F214L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232605	NM_138373.5(MYADM):c.718C>G (p.Leu240Val)	MYADM (L240V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392610	NM_138373.5(MYADM):c.742G>A (p.Val248Ile)	MYADM (V248I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489219	NM_138373.5(MYADM):c.782A>C (p.Tyr261Ser)	MYADM (Y261S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494211	NM_138373.5(MYADM):c.798G>C (p.Lys266Asn)	MYADM (K266N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547762	NM_138373.5(MYADM):c.890C>T (p.Ala297Val)	MYADM (A297V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536971	NM_138373.5(MYADM):c.920A>C (p.Tyr307Ser)	MYADM (Y307S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684893	GRCh37/hg19 19q13.42(chr19:53963333-54421591)x3	CACNG7, DPRX +10 more	Copy number gain	not provided	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1443808	NC_000019.9:g.(?_54297303)_(55678016_?)dup	CACNG6, CACNG7 +51 more	Duplication	not provided	GUncertain significance
Select item 1000671	NC_000019.9:g.(?_54297303)_(54410149_?)dup	MYADM, NLRP12 +1 more	Duplication	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 980772	GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3	TMC4, TMEM150B +87 more	Copy number gain	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 831822	NC_000019.10:g.(?_53873530)_(53893391_?)dup	MYADM, PRKCG	Duplication	not provided	GUncertain significance
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564602	GRCh37/hg19 19q13.42(chr19:53867570-55833460)x3	BRSK1, CACNG6 +68 more	Copy number gain	not provided	GUncertain significance
Select item 564589	GRCh37/hg19 19q13.42(chr19:54082504-54417191)x3	CACNG7, MIR520H +9 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 253748	GRCh37/hg19 19q13.42(chr19:54280799-54486105)x3	PRKCG, CACNG7 +6 more	Copy number gain	See cases	GUncertain significance
Select item 253745	GRCh37/hg19 19q13.42(chr19:54082353-54486105)x3	MIR520H, ZNF331 +10 more	Copy number gain	See cases	GUncertain significance
Select item 253434	GRCh37/hg19 19q13.42(chr19:54280799-54635178)x1	CACNG6, CACNG7 +13 more	Copy number loss	See cases	GPathogenic

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Items: 48