29095[HGNC] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 2238678	NM_001303264.2(TSC22D2):c.8A>G (p.Lys3Arg)	TSC22D2 (K3R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621939	NM_001303264.2(TSC22D2):c.73A>G (p.Ser25Gly)	TSC22D2 (S25G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369970	NM_001303264.2(TSC22D2):c.160G>A (p.Ala54Thr)	TSC22D2 (A54T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264344	NM_001303264.2(TSC22D2):c.230A>T (p.Asp77Val)	TSC22D2 (D77V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329538	NM_001303264.2(TSC22D2):c.239C>A (p.Thr80Asn)	TSC22D2 (T80N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183570	NM_001303264.2(TSC22D2):c.281T>A (p.Leu94Gln)	TSC22D2 (L94Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376832	NM_001303264.2(TSC22D2):c.317G>T (p.Gly106Val)	LOC129937752, TSC22D2 (G106V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608862	NM_001303264.2(TSC22D2):c.337G>T (p.Val113Leu)	LOC129937752, TSC22D2 (V113L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405600	NM_001303264.2(TSC22D2):c.337G>C (p.Val113Leu)	LOC129937752, TSC22D2 (V113L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217374	NM_001303264.2(TSC22D2):c.353C>A (p.Ala118Asp)	LOC129937752, TSC22D2 (A118D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2654227	NM_001303264.2(TSC22D2):c.366G>A (p.Ala122=)	LOC129937752, TSC22D2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2367157	NM_001303264.2(TSC22D2):c.391C>G (p.Pro131Ala)	LOC129937752, TSC22D2 (P131A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183571	NM_001303264.2(TSC22D2):c.392C>G (p.Pro131Arg)	LOC129937752, TSC22D2 (P131R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225734	NM_001303264.2(TSC22D2):c.414G>C (p.Gln138His)	LOC129937752, TSC22D2 (Q138H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459460	NM_001303264.2(TSC22D2):c.508G>T (p.Gly170Trp)	TSC22D2 (G170W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329545	NM_001303264.2(TSC22D2):c.615C>A (p.Ser205Arg)	TSC22D2 (S205R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526435	NM_001303264.2(TSC22D2):c.620C>T (p.Thr207Ile)	TSC22D2 (T207I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2654228	NM_001303264.2(TSC22D2):c.652C>T (p.Leu218=)	TSC22D2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2465431	NM_001303264.2(TSC22D2):c.731G>C (p.Ser244Thr)	TSC22D2 (S244T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545937	NM_001303264.2(TSC22D2):c.748T>C (p.Ser250Pro)	TSC22D2 (S250P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329546	NM_001303264.2(TSC22D2):c.760C>G (p.Pro254Ala)	TSC22D2 (P254A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523780	NM_001303264.2(TSC22D2):c.761C>T (p.Pro254Leu)	TSC22D2 (P254L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250010	NM_001303264.2(TSC22D2):c.788C>T (p.Pro263Leu)	TSC22D2 (P263L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341337	NM_001303264.2(TSC22D2):c.872C>T (p.Pro291Leu)	TSC22D2 (P291L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183572	NM_001303264.2(TSC22D2):c.917T>C (p.Met306Thr)	TSC22D2 (M306T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211216	NM_001303264.2(TSC22D2):c.945G>C (p.Gln315His)	TSC22D2 (Q315H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401446	NM_001303264.2(TSC22D2):c.953G>A (p.Gly318Glu)	TSC22D2 (G318E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309628	NM_001303264.2(TSC22D2):c.955C>T (p.Pro319Ser)	TSC22D2 (P319S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491254	NM_001303264.2(TSC22D2):c.961G>A (p.Gly321Arg)	TSC22D2 (G321R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462440	NM_001303264.2(TSC22D2):c.977C>G (p.Pro326Arg)	TSC22D2 (P326R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471396	NM_001303264.2(TSC22D2):c.1036G>A (p.Val346Met)	TSC22D2 (V346M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329544	NM_001303264.2(TSC22D2):c.1046C>T (p.Pro349Leu)	TSC22D2 (P349L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329539	NM_001303264.2(TSC22D2):c.1055A>T (p.Gln352Leu)	TSC22D2 (Q352L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183565	NM_001303264.2(TSC22D2):c.1066C>G (p.Gln356Glu)	TSC22D2 (Q356E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183566	NM_001303264.2(TSC22D2):c.1071C>G (p.Phe357Leu)	TSC22D2 (F357L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523554	NM_001303264.2(TSC22D2):c.1084C>T (p.Pro362Ser)	TSC22D2 (P362S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329543	NM_001303264.2(TSC22D2):c.1187C>G (p.Pro396Arg)	TSC22D2 (P396R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404576	NM_001303264.2(TSC22D2):c.1267G>A (p.Gly423Ser)	TSC22D2 (G423S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361636	NM_001303264.2(TSC22D2):c.1285G>A (p.Ala429Thr)	TSC22D2 (A429T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2392068	NM_001303264.2(TSC22D2):c.1316C>T (p.Pro439Leu)	TSC22D2 (P439L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183567	NM_001303264.2(TSC22D2):c.1408C>G (p.Leu470Val)	TSC22D2 (L470V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332382	NM_001303264.2(TSC22D2):c.1414C>T (p.Pro472Ser)	TSC22D2 (P472S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183568	NM_001303264.2(TSC22D2):c.1417G>C (p.Ala473Pro)	TSC22D2 (A473P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217726	NM_001303264.2(TSC22D2):c.1472C>A (p.Pro491Gln)	TSC22D2 (P491Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3329541	NM_001303264.2(TSC22D2):c.1550G>A (p.Ser517Asn)	TSC22D2 (S517N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211410	NM_001303264.2(TSC22D2):c.1574C>A (p.Ser525Tyr)	TSC22D2 (S525Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376359	NM_001303264.2(TSC22D2):c.1584G>A (p.Met528Ile)	TSC22D2 (M528I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333975	NM_001303264.2(TSC22D2):c.1619A>G (p.Gln540Arg)	TSC22D2 (Q540R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498234	NM_001303264.2(TSC22D2):c.1702G>T (p.Ala568Ser)	TSC22D2 (A568S)	Single nucleotide variant (missense variant +1 more)	Keratoconus	GUncertain significance
Select item 2221829	NM_001303264.2(TSC22D2):c.1799C>G (p.Pro600Arg)	TSC22D2 (P600R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609729	NM_001303264.2(TSC22D2):c.1885C>A (p.Gln629Lys)	TSC22D2 (Q629K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492205	NM_001303264.2(TSC22D2):c.1907T>C (p.Leu636Pro)	TSC22D2 (L636P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278121	NM_001303264.2(TSC22D2):c.2036A>T (p.Tyr679Phe)	TSC22D2 (Y679F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488610	NM_001303264.2(TSC22D2):c.2215G>A (p.Ala739Thr)	TSC22D2 (A763T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329542	NM_001303264.2(TSC22D2):c.2234C>T (p.Thr745Met)	TSC22D2 (T745M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473532	NM_001303264.2(TSC22D2):c.2246A>G (p.Gln749Arg)	TSC22D2 (Q749R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 60121	GRCh38/hg38 3q25.1(chr3:150462960-150915627)x1	EIF2A, ERICH6 +26 more	Copy number loss	See cases	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1459543	NC_000003.11:g.(?_148447967)_(151176497_?)del	CPB1, EIF2A +28 more	Deletion	Polyglucosan body myopathy type 2 +1 more	GPathogenic
Select item 1330165	GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3	AADAC, SLC33A1 +63 more	Copy number gain	Brachycephaly +2 more	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	PTX3, SCHIP1 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	PLOD2, PLS1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 814487	GRCh37/hg19 3q25.1-25.2(chr3:149404255-152786331)x1	GPR171, IGSF10 +23 more	Copy number loss	not provided	GPathogenic
Select item 814486	GRCh37/hg19 3q24-25.1(chr3:144053029-150272658)x1	WWTR1, CP +23 more	Copy number loss	not provided	GLikely pathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 395230	GRCh37/hg19 3q24-25.2(chr3:148425748-153220169)x1	AADAC, AADACL2 +35 more	Copy number loss	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 74