TMEM104[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 2302503	NM_017728.4(TMEM104):c.16A>G (p.Thr6Ala)	TMEM104 (T6A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178402	NM_017728.4(TMEM104):c.25G>A (p.Gly9Arg)	TMEM104 (G9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308248	NM_017728.4(TMEM104):c.118G>A (p.Ala40Thr)	TMEM104 (A40T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605930	NM_017728.4(TMEM104):c.127C>G (p.Leu43Val)	TMEM104 (L43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206705	NM_017728.4(TMEM104):c.139G>A (p.Val47Ile)	TMEM104 (V47I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607863	NM_017728.4(TMEM104):c.163A>C (p.Met55Leu)	TMEM104 (M55L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330404	NM_017728.4(TMEM104):c.265G>A (p.Asp89Asn)	TMEM104 (D89N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773593	NM_017728.4(TMEM104):c.288C>T (p.Ser96=)	TMEM104	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2367298	NM_017728.4(TMEM104):c.302G>A (p.Arg101Gln)	TMEM104 (R101Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369973	NM_017728.4(TMEM104):c.316C>T (p.Arg106Trp)	TMEM104 (R106W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311360	NM_017728.4(TMEM104):c.366C>G (p.Asn122Lys)	TMEM104 (N122K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178403	NM_017728.4(TMEM104):c.385C>T (p.Arg129Trp)	TMEM104 (R129W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228675	NM_017728.4(TMEM104):c.386G>A (p.Arg129Gln)	TMEM104 (R129Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618666	NM_017728.4(TMEM104):c.396G>A (p.Met132Ile)	TMEM104 (M132I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521496	NM_017728.4(TMEM104):c.426A>C (p.Lys142Asn)	TMEM104 (K142N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326634	NM_017728.4(TMEM104):c.434T>C (p.Val145Ala)	TMEM104 (V145A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178404	NM_017728.4(TMEM104):c.481G>A (p.Ala161Thr)	TMEM104 (A161T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329322	NM_017728.4(TMEM104):c.496G>A (p.Ala166Thr)	TMEM104 (A166T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178405	NM_017728.4(TMEM104):c.538G>C (p.Gly180Arg)	TMEM104 (G180R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368455	NM_017728.4(TMEM104):c.553G>A (p.Gly185Ser)	TMEM104 (G185S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178406	NM_017728.4(TMEM104):c.566A>T (p.Asp189Val)	TMEM104 (D189V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545065	NM_017728.4(TMEM104):c.569C>T (p.Thr190Ile)	TMEM104 (T190I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396526	NM_017728.4(TMEM104):c.589C>T (p.Arg197Trp)	TMEM104 (R197W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782159	NM_017728.4(TMEM104):c.604C>G (p.Leu202Val)	TMEM104 (L202V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2588001	NM_017728.4(TMEM104):c.626G>A (p.Arg209His)	TMEM104 (R209H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216332	NM_017728.4(TMEM104):c.739G>A (p.Val247Ile)	TMEM104 (V247I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3178407	NM_017728.4(TMEM104):c.775G>A (p.Gly259Arg)	TMEM104 (G259R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378458	NM_017728.4(TMEM104):c.812C>T (p.Ser271Leu)	TMEM104 (S271L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326631	NM_017728.4(TMEM104):c.817G>A (p.Val273Ile)	TMEM104 (V273I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178408	NM_017728.4(TMEM104):c.821G>A (p.Arg274Gln)	TMEM104 (R274Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351001	NM_017728.4(TMEM104):c.902G>A (p.Arg301His)	TMEM104 (R301H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395254	NM_017728.4(TMEM104):c.932A>G (p.Tyr311Cys)	TMEM104 (Y311C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537861	NM_017728.4(TMEM104):c.937C>A (p.Leu313Met)	TMEM104 (L313M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326630	NM_017728.4(TMEM104):c.989G>A (p.Arg330His)	TMEM104 (R330H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340606	NM_017728.4(TMEM104):c.991G>A (p.Gly331Ser)	TMEM104 (G331S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229376	NM_017728.4(TMEM104):c.1027G>A (p.Ala343Thr)	TMEM104 (A343T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178399	NM_017728.4(TMEM104):c.1039G>A (p.Val347Ile)	TMEM104 (V347I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327322	NM_017728.4(TMEM104):c.1097G>A (p.Ser366Asn)	TMEM104 (S366N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335479	NM_017728.4(TMEM104):c.1103A>G (p.Asn368Ser)	TMEM104 (N368S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326632	NM_017728.4(TMEM104):c.1157G>T (p.Arg386Leu)	TMEM104 (R386L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402483	NM_017728.4(TMEM104):c.1169C>T (p.Thr390Met)	TMEM104 (T390M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311091	NM_017728.4(TMEM104):c.1189C>T (p.Arg397Cys)	TMEM104 (R397C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178400	NM_017728.4(TMEM104):c.1190G>A (p.Arg397His)	TMEM104 (R397H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326633	NM_017728.4(TMEM104):c.1192G>A (p.Val398Ile)	TMEM104 (V398I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390561	NM_017728.4(TMEM104):c.1195G>A (p.Val399Met)	TMEM104 (V399M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178401	NM_017728.4(TMEM104):c.1294G>A (p.Gly432Ser)	TMEM104 (G432S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326635	NM_017728.4(TMEM104):c.1397G>A (p.Arg466His)	TMEM104 (R466H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 625759	GRCh37/hg19 17q24.3-25.1(chr17:70720436-73175266)	BTBD17, ARMC7 +40 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 59