79853[geneid] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	CCL20, CHRND +347 more	Copy number loss	See cases	GPathogenic
Select item 1670988	NM_024795.4(TM4SF20):c.687G>A (p.Val229=)	TM4SF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1596695	NM_024795.4(TM4SF20):c.668A>C (p.Lys223Thr)	TM4SF20 (K223T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2883359	NM_024795.4(TM4SF20):c.663C>T (p.Val221=)	TM4SF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2167585	NM_024795.4(TM4SF20):c.661G>A (p.Val221Ile)	TM4SF20 (V221I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1662441	NM_024795.4(TM4SF20):c.654G>T (p.Leu218=)	TM4SF20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2896238	NM_024795.4(TM4SF20):c.639T>C (p.Gly213=)	TM4SF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1600994	NM_024795.4(TM4SF20):c.636C>T (p.Ile212=)	TM4SF20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1958344	NM_024795.4(TM4SF20):c.607G>T (p.Val203Phe)	TM4SF20 (V203F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1349656	NM_024795.4(TM4SF20):c.598_606del (p.Ile200_Glu202del)	TM4SF20	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2530193	NM_024795.4(TM4SF20):c.595G>A (p.Gly199Arg)	TM4SF20 (G199R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2633028	NM_024795.4(TM4SF20):c.589C>T (p.Leu197Phe)	TM4SF20 (L197F)	Single nucleotide variant (missense variant)	TM4SF20-related disorder	GUncertain significance
Select item 1648610	NM_024795.4(TM4SF20):c.572T>C (p.Val191Ala)	TM4SF20 (V191A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1065577	NM_024795.4(TM4SF20):c.559A>G (p.Ile187Val)	TM4SF20 (I187V)	Single nucleotide variant (missense variant)	Specific language impairment 5	GLikely benign
Select item 3178115	NM_024795.4(TM4SF20):c.546C>G (p.Asn182Lys)	TM4SF20 (N182K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1445513	NM_024795.4(TM4SF20):c.531C>A (p.Phe177Leu)	TM4SF20 (F177L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1409496	NM_024795.4(TM4SF20):c.512G>A (p.Arg171Lys)	TM4SF20 (R171K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2665075	NM_024795.4(TM4SF20):c.510G>A (p.Trp170Ter)	TM4SF20 (W170*)	Single nucleotide variant (nonsense)	Specific language impairment 5	GUncertain significance
Select item 1962624	NM_024795.4(TM4SF20):c.486T>C (p.Ser162=)	TM4SF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635521	NM_024795.4(TM4SF20):c.457C>T (p.Pro153Ser)	TM4SF20 (P153S)	Single nucleotide variant (missense variant)	TM4SF20-related disorder	GUncertain significance
Select item 1414586	NM_024795.4(TM4SF20):c.417A>T (p.Glu139Asp)	TM4SF20 (E139D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2745979	NM_024795.4(TM4SF20):c.402-2A>G	TM4SF20	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1541296	NM_024795.4(TM4SF20):c.401+10T>C	TM4SF20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1167997	NM_024795.4(TM4SF20):c.374A>G (p.Asn125Ser)	TM4SF20 (N125S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2240538	NM_024795.4(TM4SF20):c.359G>C (p.Ser120Thr)	TM4SF20 (S120T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2180916	NM_024795.4(TM4SF20):c.349A>T (p.Asn117Tyr)	TM4SF20 (N117Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581585	NM_024795.4(TM4SF20):c.322del (p.Ala108fs)	TM4SF20 (A108fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 1938351	NM_024795.4(TM4SF20):c.307C>G (p.Leu103Val)	TM4SF20 (L103V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1525941	NM_024795.4(TM4SF20):c.295C>G (p.Leu99Val)	TM4SF20 (L99V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940780	NM_024795.4(TM4SF20):c.287T>C (p.Ile96Thr)	TM4SF20 (I96T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2396942	NM_024795.4(TM4SF20):c.278T>C (p.Ile93Thr)	TM4SF20 (I93T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1701771	NM_024795.4(TM4SF20):c.271A>G (p.Ser91Gly)	TM4SF20 (S91G)	Single nucleotide variant (missense variant)	Specific language impairment 5	GUncertain significance
Select item 1165948	NM_024795.4(TM4SF20):c.265C>T (p.Leu89Phe)	TM4SF20 (L89F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3366829	NM_024795.4(TM4SF20):c.250-2A>G	TM4SF20	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 1987379	NM_024795.4(TM4SF20):c.250-13T>C	TM4SF20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636825	NM_024795.4(TM4SF20):c.249+18G>A	LOC126806540, TM4SF20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1167277	NM_024795.4(TM4SF20):c.249+13C>T	LOC126806540, TM4SF20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2129854	NM_024795.4(TM4SF20):c.249+4A>G	LOC126806540, TM4SF20	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1926817	NM_024795.4(TM4SF20):c.233G>A (p.Cys78Tyr)	LOC126806540, TM4SF20 (C78Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2730400	NM_024795.4(TM4SF20):c.228G>A (p.Ala76=)	LOC126806540, TM4SF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2077755	NM_024795.4(TM4SF20):c.225A>T (p.Arg75Ser)	LOC126806540, TM4SF20 (R75S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1568543	NM_024795.4(TM4SF20):c.201A>G (p.Thr67=)	LOC126806540, TM4SF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1391332	NM_024795.4(TM4SF20):c.184-2A>T	LOC126806540, TM4SF20	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 156825	NM_024795.3(TM4SF20):c.-14304_183+492dup	SCYGR1, TM4SF20	Duplication	Preeclampsia	Gnot provided
Select item 1901062	NM_024795.4(TM4SF20):c.156C>A (p.Phe52Leu)	TM4SF20 (F52L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3178114	NM_024795.4(TM4SF20):c.134T>C (p.Ile45Thr)	TM4SF20 (I45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1472274	NM_024795.4(TM4SF20):c.130C>T (p.Pro44Ser)	TM4SF20 (P44S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2155827	NM_024795.4(TM4SF20):c.85C>A (p.Pro29Thr)	TM4SF20 (P29T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1592240	NM_024795.4(TM4SF20):c.83T>C (p.Ile28Thr)	TM4SF20 (I28T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2144453	NM_024795.4(TM4SF20):c.81G>A (p.Ala27=)	TM4SF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1166272	NM_024795.4(TM4SF20):c.80C>T (p.Ala27Val)	TM4SF20 (A27V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1169449	NM_024795.4(TM4SF20):c.75C>T (p.Leu25=)	TM4SF20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2236012	NM_024795.4(TM4SF20):c.73C>G (p.Leu25Val)	TM4SF20 (L25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326463	NM_024795.4(TM4SF20):c.70G>A (p.Val24Ile)	TM4SF20 (V24I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1514351	NM_024795.4(TM4SF20):c.37T>C (p.Phe13Leu)	TM4SF20 (F13L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1913669	NM_024795.4(TM4SF20):c.32A>G (p.Asn11Ser)	TM4SF20 (N11S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1598087	NM_024795.4(TM4SF20):c.25T>G (p.Ser9Ala)	TM4SF20 (S9A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1546140	NM_024795.4(TM4SF20):c.12C>T (p.Cys4=)	TM4SF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2426892	NC_000002.11:g.(?_227659726)_(228567034_?)dup	AGFG1, C2orf83 +7 more	Duplication	not provided	GUncertain significance
Select item 1722458	NC_000002.11:g.(228235697_228243801)_(228244023_?)dup	TM4SF20	Duplication	not specified	GBenign
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 1526955	GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074)	ACSL3, AGFG1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1412472	NC_000002.11:g.(?_228230789)_(228230980_?)del	TM4SF20	Deletion	not provided	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 980012	GRCh37/hg19 2q36.2-36.3(chr2:226027074-229110812)x1	SPHKAP, MFF +11 more	Copy number loss	not provided	GLikely pathogenic
Select item 688393	GRCh37/hg19 2q36.3(chr2:228036577-228481611)x1	AGFG1, C2orf83 +3 more	Copy number loss	not provided	GUncertain significance
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 625778	GRCh37/hg19 2q36.3(chr2:228230759-228234864)	TM4SF20	Copy number loss	not provided	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
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 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	UGT1A8, UGT1A9 +113 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 243063	TM4SF20, 4-KB DEL	TM4SF20	Deletion	Specific language impairment 5	GPathogenic

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Items: 85