TIMD4[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	LOC129995100, LOC129995101 +294 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	LINC02159, LINC02202 +279 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995188, LOC129995189 +863 more	Copy number gain	See cases	GPathogenic
Select item 714285	NM_138379.3(TIMD4):c.1093G>A (p.Val365Met)	TIMD4 (V337M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2480791	NM_138379.3(TIMD4):c.1021A>G (p.Met341Val)	TIMD4 (M313V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177506	NM_138379.3(TIMD4):c.997G>T (p.Ala333Ser)	TIMD4 (A333S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513251	NM_138379.3(TIMD4):c.950T>C (p.Met317Thr)	TIMD4 (M289T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594027	NM_138379.3(TIMD4):c.757A>C (p.Lys253Gln)	TIMD4 (K253Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477357	NM_138379.3(TIMD4):c.674C>A (p.Thr225Asn)	TIMD4 (T225N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543157	NM_138379.3(TIMD4):c.617C>T (p.Pro206Leu)	TIMD4 (P206L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177505	NM_138379.3(TIMD4):c.578C>T (p.Thr193Ile)	TIMD4 (T193I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545108	NM_138379.3(TIMD4):c.556A>G (p.Thr186Ala)	TIMD4 (T186A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780963	NM_138379.3(TIMD4):c.536C>T (p.Thr179Ile)	TIMD4 (T179I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 786079	NM_138379.3(TIMD4):c.514G>A (p.Val172Met)	TIMD4 (V172M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780591	NM_138379.3(TIMD4):c.509C>A (p.Thr170Lys)	TIMD4 (T170K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2456567	NM_138379.3(TIMD4):c.473G>A (p.Arg158Gln)	TIMD4 (R158Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525636	NM_138379.3(TIMD4):c.455C>G (p.Thr152Arg)	TIMD4 (T152R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177504	NM_138379.3(TIMD4):c.440G>A (p.Arg147His)	TIMD4 (R147H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598154	NM_138379.3(TIMD4):c.413C>T (p.Thr138Met)	TIMD4 (T138M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467544	NM_138379.3(TIMD4):c.382C>A (p.Arg128Ser)	TIMD4 (R128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511505	NM_138379.3(TIMD4):c.269T>G (p.Ile90Ser)	TIMD4 (I90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177502	NM_138379.3(TIMD4):c.217G>A (p.Gly73Arg)	TIMD4 (G73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177501	NM_138379.3(TIMD4):c.172C>G (p.Gln58Glu)	TIMD4 (Q58E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275597	NM_138379.3(TIMD4):c.169G>C (p.Asp57His)	TIMD4 (D57H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220125	NM_138379.3(TIMD4):c.104G>A (p.Arg35Gln)	TIMD4 (R35Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425365	NC_000005.9:g.(?_155338082)_(156899968_?)dup	CYFIP2, FNDC9 +8 more	Duplication	Lymphoproliferative syndrome 1	GUncertain significance
Select item 2425364	NC_000005.9:g.(?_155338082)_(156899968_?)del	CYFIP2, FNDC9 +8 more	Deletion	Lymphoproliferative syndrome 1	GPathogenic
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1481597	NC_000005.9:g.(?_155935591)_(156899968_?)del	GARIN3, MED7 +8 more	Deletion	not provided	GUncertain significance
Select item 1339784	GRCh37/hg19 5q33.3-34(chr5:155970607-162450579)x1	ADAM19, ADRA1B +33 more	Copy number loss	not provided	Gnot provided
Select item 814756	GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1	ADAM19, ADRA1B +51 more	Copy number loss	not provided	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	ABLIM3, CBY3 +520 more	Copy number gain	See cases	GPathogenic
Select item 253504	GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1	ADAM19, ADRA1B +50 more	Copy number loss	See cases	GPathogenic

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Items: 39