TMIGD2[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 60071	GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1	PIP5K1C, PLIN4 +142 more	Copy number loss	See cases	GPathogenic
Select item 155547	GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1	ANKRD24, ARRDC5 +150 more	Copy number loss	See cases	GLikely pathogenic
Select item 144751	GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3	ANKRD24, ARRDC5 +145 more	Copy number gain	See cases	GUncertain significance
Select item 59083	GRCh38/hg38 19p13.3(chr19:4008560-4763159)x3	ANKRD24, CHAF1A +99 more	Copy number gain	See cases	GPathogenic
Select item 2520521	NM_001169126.2(TMIGD2):c.812G>C (p.Gly271Ala)	TMIGD2 (G155A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3327259	NM_001169126.2(TMIGD2):c.800C>T (p.Pro267Leu)	TMIGD2 (P151L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296233	NM_001169126.2(TMIGD2):c.757T>G (p.Ser253Ala)	TMIGD2 (S253A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786348	NM_001169126.2(TMIGD2):c.747C>G (p.Gly249=)	TMIGD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3179797	NM_001169126.2(TMIGD2):c.745G>A (p.Gly249Ser)	TMIGD2 (G253S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2537206	NM_001169126.2(TMIGD2):c.734G>A (p.Ser245Asn)	TMIGD2 (S129N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468223	NM_001169126.2(TMIGD2):c.700T>C (p.Ser234Pro)	TMIGD2 (S200P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508103	NM_001169126.2(TMIGD2):c.683G>A (p.Arg228His)	TMIGD2 (R112H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179796	NM_001169126.2(TMIGD2):c.682C>A (p.Arg228Ser)	TMIGD2 (R112S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590349	NM_001169126.2(TMIGD2):c.659C>T (p.Thr220Ile)	TMIGD2 (T186I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3179795	NM_001169126.2(TMIGD2):c.622G>C (p.Glu208Gln)	TMIGD2 (E208Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2565479	NM_001169126.2(TMIGD2):c.571G>A (p.Val191Ile)	TMIGD2 (V195I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397514	NM_001169126.2(TMIGD2):c.527G>A (p.Arg176His)	TMIGD2 (R176H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2218553	NM_001169126.2(TMIGD2):c.526C>T (p.Arg176Cys)	TMIGD2 (R56C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3327261	NM_001169126.2(TMIGD2):c.482T>C (p.Met161Thr)	TMIGD2 (M161T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3327257	NM_001169126.2(TMIGD2):c.460G>A (p.Val154Met)	TMIGD2 (V154M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2342184	NM_001169126.2(TMIGD2):c.460G>C (p.Val154Leu)	TMIGD2 (V154L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 773771	NM_001169126.2(TMIGD2):c.325G>A (p.Ala109Thr)	TMIGD2 (A109T)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2208520	NM_001169126.2(TMIGD2):c.314A>G (p.Asn105Ser)	TMIGD2 (N105S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2397995	NM_001169126.2(TMIGD2):c.257G>A (p.Arg86Gln)	TMIGD2 (R86Q)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 731137	NM_001169126.2(TMIGD2):c.191C>T (p.Ala64Val)	TMIGD2 (A64V)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2394178	NM_001169126.2(TMIGD2):c.166C>T (p.Arg56Cys)	TMIGD2 (R56C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2377767	NM_001169126.2(TMIGD2):c.161G>A (p.Arg54Gln)	TMIGD2 (R54Q)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 731138	NM_001169126.2(TMIGD2):c.148A>C (p.Thr50Pro)	TMIGD2 (T50P)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 731139	NM_001169126.2(TMIGD2):c.144G>A (p.Gln48=)	TMIGD2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3327260	NM_001169126.2(TMIGD2):c.14G>A (p.Gly5Asp)	TMIGD2 (G5D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781731	NM_001169126.2(TMIGD2):c.12G>A (p.Pro4=)	TMIGD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3242666	NC_000019.9:g.(?_3917720)_(4818389_?)dup	ANKRD24, ATCAY +27 more	Duplication	not provided	GUncertain significance
Select item 3062389	GRCh37/hg19 19p13.3(chr19:3788725-4881494)x1	EBI3, EEF2 +30 more	Copy number loss	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 1340547	GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1	ANKRD24, APBA3 +46 more	Copy number loss	not provided	GPathogenic
Select item 1340338	GRCh37/hg19 19p13.3(chr19:4182912-4633772)x3	ANKRD24, CHAF1A +13 more	Copy number gain	not provided	GUncertain significance
Select item 1047892	GRCh37/hg19 19p13.3(chr19:3976203-4345430)	PIAS4, SHD +12 more	Copy number loss	Global developmental delay +1 more	GPathogenic
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 625734	GRCh37/hg19 19p13.3(chr19:3076808-4796782)	ANKRD24, APBA3 +48 more	Copy number loss	not provided	GPathogenic
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 549647	Single allele	CREB3L3, SHD +28 more	Duplication	Primary amenorrhea	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

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Items: 51