ClinVar for Gene (Select 81533) - ClinVar

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Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286651	NM_030790.5(ITFG1):c.1657C>G (p.Arg553Gly)	ITFG1, ITFG1-AS1 (R553G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286650	NM_030790.5(ITFG1):c.1562G>A (p.Arg521His)	ITFG1, ITFG1-AS1 (R521H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3286649	NM_030790.5(ITFG1):c.889A>G (p.Met297Val)	ITFG1 (M297V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286648	NM_030790.5(ITFG1):c.1384G>A (p.Val462Met)	ITFG1 (V462M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286647	NM_030790.5(ITFG1):c.37C>G (p.Leu13Val)	ITFG1, LOC130058947 (L13V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111106	NM_030790.5(ITFG1):c.929A>G (p.Lys310Arg)	ITFG1 (K197R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111105	NM_030790.5(ITFG1):c.767T>C (p.Met256Thr)	ITFG1 (M256T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111104	NM_030790.5(ITFG1):c.739A>C (p.Ser247Arg)	ITFG1 (S134R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111103	NM_030790.5(ITFG1):c.734C>G (p.Ser245Cys)	ITFG1 (S245C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111102	NM_030790.5(ITFG1):c.67C>G (p.Leu23Val)	ITFG1, LOC130058947 (L23V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111101	NM_030790.5(ITFG1):c.574C>A (p.His192Asn)	ITFG1 (H192N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111100	NM_030790.5(ITFG1):c.417T>G (p.Asn139Lys)	ITFG1 (N139K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111099	NM_030790.5(ITFG1):c.292G>A (p.Ala98Thr)	ITFG1 (A98T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3111098	NM_030790.5(ITFG1):c.1810G>T (p.Ala604Ser)	ITFG1, ITFG1-AS1 (A604S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3111097	NM_030790.5(ITFG1):c.1586G>A (p.Arg529Gln)	ITFG1, ITFG1-AS1 (R416Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111096	NM_030790.5(ITFG1):c.1133G>T (p.Arg378Leu)	ITFG1 (R378L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111095	NM_030790.5(ITFG1):c.1133G>A (p.Arg378His)	ITFG1 (R378H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3111094	NM_030790.5(ITFG1):c.1132C>A (p.Arg378Ser)	ITFG1 (R265S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621811	NM_030790.5(ITFG1):c.8C>T (p.Ala3Val)	ITFG1, LOC130058947 (A3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612032	NM_030790.5(ITFG1):c.931G>A (p.Gly311Ser)	ITFG1 (G198S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592031	NM_030790.5(ITFG1):c.1568C>A (p.Ser523Tyr)	ITFG1, ITFG1-AS1 (S523Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558136	NM_030790.5(ITFG1):c.1367A>T (p.Lys456Met)	ITFG1 (K343M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529936	NM_030790.5(ITFG1):c.22C>T (p.Pro8Ser)	ITFG1, LOC130058947 (P8S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491123	NM_030790.5(ITFG1):c.891G>A (p.Met297Ile)	ITFG1 (M184I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462689	NM_030790.5(ITFG1):c.1050A>G (p.Ile350Met)	ITFG1 (I237M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422825	NC_000016.9:g.(?_46694384)_(48258199_?)dup	ABCC11, ABCC12 +9 more	Duplication	Glycogen storage disease IXb	GUncertain significance
Select item 2393490	NM_030790.5(ITFG1):c.959T>C (p.Val320Ala)	ITFG1 (V320A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380152	NM_030790.5(ITFG1):c.1726G>A (p.Gly576Ser)	ITFG1, ITFG1-AS1 (G576S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371332	NM_030790.5(ITFG1):c.440T>A (p.Met147Lys)	ITFG1 (M147K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365193	NM_030790.5(ITFG1):c.34G>C (p.Ala12Pro)	ITFG1, LOC130058947 (A12P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326208	NM_030790.5(ITFG1):c.1109A>G (p.Asn370Ser)	ITFG1 (N257S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313689	NM_030790.5(ITFG1):c.1132C>T (p.Arg378Cys)	ITFG1 (R378C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311904	NM_030790.5(ITFG1):c.193T>C (p.Phe65Leu)	ITFG1 (F65L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307135	NM_030790.5(ITFG1):c.1028G>A (p.Gly343Asp)	ITFG1 (G343D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297850	NM_030790.5(ITFG1):c.1583T>C (p.Ile528Thr)	ITFG1, ITFG1-AS1 (I415T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292257	NM_030790.5(ITFG1):c.1649A>G (p.Asn550Ser)	ITFG1, ITFG1-AS1 (N550S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291689	NM_030790.5(ITFG1):c.908T>C (p.Val303Ala)	ITFG1 (V303A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282107	NM_030790.5(ITFG1):c.193T>G (p.Phe65Val)	ITFG1 (F65V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248067	NM_030790.5(ITFG1):c.1130C>T (p.Ala377Val)	ITFG1 (A264V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212853	NM_030790.5(ITFG1):c.877G>C (p.Val293Leu)	ITFG1 (V180L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204374	NM_030790.5(ITFG1):c.625T>C (p.Phe209Leu)	ITFG1 (F209L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809482	GRCh37/hg19 16q12.1(chr16:47046015-47249587)x3	ITFG1, NETO2	Copy number gain	not provided	GUncertain significance
Select item 1807756	GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	HERPUD1, IRX3 +99 more	Copy number gain	not provided	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 1340897	GRCh37/hg19 16q12.1(chr16:47284586-47612680)x1	ITFG1, PHKB	Copy number loss	not provided	GUncertain significance
Select item 1340379	GRCh37/hg19 16q12.1(chr16:47223034-47518273)x1	ITFG1, PHKB	Copy number loss	not provided	GUncertain significance
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 980677	GRCh37/hg19 16q11.2-12.1(chr16:46503968-47312075)x3	ITFG1, SHCBP1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 815820	GRCh37/hg19 16q12.1(chr16:47258287-47662548)x1	ITFG1, PHKB	Copy number loss	not provided	GUncertain significance
Select item 688122	GRCh37/hg19 16q12.1(chr16:47258287-47662546)x1	ITFG1, PHKB	Copy number loss	not provided	GPathogenic
Select item 686533	GRCh37/hg19 16q12.1(chr16:47207534-47524705)x1	ITFG1, PHKB	Copy number loss	not provided	GUncertain significance
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443550	GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3	ABCC11, ABCC12 +100 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442863	GRCh37/hg19 16q11.2-12.1(chr16:46737110-51838691)x1	ABCC11, ABCC12 +23 more	Copy number loss	See cases	GPathogenic
Select item 442499	GRCh37/hg19 16q12.1(chr16:47223033-47658719)x1	ITFG1, PHKB	Copy number loss	See cases	GLikely benign
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 221520	GRCh37/hg19 16q11.2-12.1(chr16:46615804-47345238)x1	C16orf87, DNAJA2 +7 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 154519	GRCh38/hg38 16q12.1(chr16:47320682-47525728)x1	ITFG1, LOC112449713 +3 more	Copy number loss	See cases	GUncertain significance
Select item 154127	GRCh38/hg38 16q12.1(chr16:47224376-47628637)x1	ITFG1, LOC112449713 +4 more	Copy number loss	See cases	GLikely benign
Select item 150305	GRCh38/hg38 16q12.1(chr16:47193875-47612192)x1	ITFG1, LOC112449713 +4 more	Copy number loss	See cases	GUncertain significance
Select item 148231	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52422170)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 148087	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52355793)x3	ABCC11, ABCC12 +209 more	Copy number gain	See cases	GPathogenic
Select item 59487	GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 59486	GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1	ABCC11, ABCC12 +209 more	Copy number loss	See cases	GPathogenic
Select item 59468	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1	ABCC11, ABCC12 +202 more	Copy number loss	See cases	GPathogenic
Select item 59467	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1	ABCC11, ABCC12 +204 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 71